### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CACNA1C) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "CACNA1C" "calcium channel, voltage-dependent, L type, alpha 1C subunit" "12" "p13.3" "unknown" "LRG_334" "UD_132118405652" "" "http://www.LOVD.nl/CACNA1C" "" "1" "1390" "775" "114205" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CACNA1C_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2016-01-27 07:13:35" "00000" "2025-07-24 15:35:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001160" "CACNA1C" "transcript variant 18" "013" "NM_000719.6" "" "NP_000710.5" "" "" "" "-313" "13167" "6417" "2162416" "2807115" "00000" "2012-09-13 13:15:25" "" "" "00024102" "CACNA1C" "transcript variant 1" "028" "NM_199460.2" "" "NP_955630.2" "" "" "" "-313" "13416" "6666" "2162416" "2807115" "00006" "2016-01-27 07:11:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00679" "TS" "Timothy syndrome" "AD" "601005" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00680" "BRGDA3" "Brugada syndrome, type 3 (BRGDA-3)" "" "611875" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05158" "ARVC" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "00006" "2016-04-19 22:00:09" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06199" "LQT8" "Long QT syndrome 8" "" "618447" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07004" "NEDHFS" "neurodevelopmental disorder with hypotonia, dysmorphic facies, skin abnormalities" "AR" "620191" "" "" "" "00006" "2023-02-08 20:03:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CACNA1C" "00139" "CACNA1C" "00679" "CACNA1C" "00680" "CACNA1C" "06199" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00028989" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">33y" "0" "" "" "Hispanic" "" "00028997" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "Italy" ">31y" "0" "" "" "European" "" "00064708" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "24y" "0" "" "" "" "" "00143766" "" "" "" "1" "" "02335" "" "" "M" "" "" "" "0" "" "" "" "" "00143767" "" "" "" "1" "" "02335" "" "" "M" "" "" "" "0" "" "" "" "" "00180902" "" "" "" "1" "" "01601" "" "" "F" "?" "Denmark" "28y" "0" "" "" "" "8" "00290670" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290674" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290675" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290676" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290677" "" "" "" "152" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302972" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat17" "00304349" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00387792" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8600494" "00417666" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00433668" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00453133" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam187Pat200" "00453146" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam295Pat315" "00453164" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam439Pat471" "00453165" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam50Pat90" "00453166" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam5Pat4" "00460965" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00028989" "04170" "00028997" "04170" "00064708" "05166" "00143766" "04170" "00143767" "04170" "00180902" "05166" "00290670" "00198" "00290674" "00198" "00290675" "00198" "00290676" "00198" "00290677" "00198" "00302972" "05521" "00304349" "00198" "00387792" "00139" "00417666" "05158" "00433668" "07004" "00453133" "04172" "00453146" "04172" "00453164" "04172" "00453165" "04172" "00453166" "04172" "00460965" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00679, 00680, 01157, 04170, 04172, 05158, 05166, 05521, 06199, 07004 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000053236" "05166" "00064708" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116536" "04170" "00143766" "02335" "Familial, autosomal dominant" "40y" "suspected Brugada syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000116537" "04170" "00143767" "02335" "Familial, autosomal dominant" "43y" "suspected Brugada syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000230055" "05521" "00302972" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000281360" "00139" "00387792" "00006" "Familial, autosomal recessive" "" "non-syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000324091" "07004" "00433668" "03544" "Familial, autosomal dominant" "" "moderate intellectual disability, facial abnormality" "" "" "" "" "" "" "" "" "" "" "" "0000341779" "04172" "00453133" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341792" "04172" "00453146" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341810" "04172" "00453164" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341811" "04172" "00453165" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341812" "04172" "00453166" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000029030" "00028989" "1" "00066" "00066" "2015-01-13 09:24:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000029038" "00028997" "1" "00066" "00066" "2015-01-14 12:03:59" "" "" "SEQ-NG-S" "DNA" "" "" "0000064847" "00064708" "1" "01601" "01601" "2016-05-10 11:26:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000144624" "00143766" "1" "02335" "02335" "2017-12-05 12:34:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000144625" "00143767" "1" "02335" "02335" "2017-12-05 12:46:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000181838" "00180902" "1" "01601" "01601" "2018-09-10 13:16:33" "" "" "SEQ-NG-I" "DNA" "" "100 genes associated with cardiac diseases" "0000291838" "00290670" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291842" "00290674" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291843" "00290675" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291844" "00290676" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291845" "00290677" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304097" "00302972" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000305478" "00304349" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000389023" "00387792" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000418959" "00417666" "1" "04384" "04384" "2022-09-21 12:28:14" "" "" "SEQ-NG" "DNA" "" "" "0000435126" "00433668" "1" "03544" "03544" "2023-03-12 20:51:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000454744" "00453133" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454757" "00453146" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454775" "00453164" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454776" "00453165" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454777" "00453166" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000462597" "00460965" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000144624" "CACNA1C" "0000144625" "CACNA1C" "0000304097" "CACNA1C" "0000389023" "CACNA1C" "0000418959" "CACNA1C" "0000462597" "CACNA1C" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 530 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000005087" "3" "30" "12" "2690702" "2690702" "subst" "0" "00037" "CACNA1C_000012" "g.2690702G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2581536G>A" "" "likely benign" "" "0000005088" "3" "30" "12" "2773855" "2773855" "subst" "0" "00037" "CACNA1C_000013" "g.2773855G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2664689G>A" "" "likely benign" "" "0000005089" "3" "30" "12" "2783476" "2783476" "subst" "0" "00037" "CACNA1C_000011" "g.2783476T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2674310T>C" "" "likely benign" "" "0000013031" "0" "30" "12" "2173805" "2173805" "subst" "0" "00037" "CACNA1C_000007" "g.2173805A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2064639A>G" "" "likely benign" "" "0000013032" "3" "30" "12" "2690702" "2690702" "subst" "0" "00037" "CACNA1C_000012" "g.2690702G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2581536G>A" "" "likely benign" "" "0000013033" "3" "30" "12" "2773855" "2773855" "subst" "0" "00037" "CACNA1C_000013" "g.2773855G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2664689G>A" "" "likely benign" "" "0000013034" "3" "30" "12" "2774668" "2774668" "subst" "0" "00037" "CACNA1C_000010" "g.2774668C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2665502C>A" "" "likely benign" "" "0000052379" "1" "10" "12" "2694651" "2694651" "subst" "0.00237162" "00066" "CACNA1C_000008" "g.2694651C>T" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "rs112532048" "0" "" "" "g.2585485C>T" "" "benign" "" "0000089011" "0" "50" "12" "2795382" "2795382" "subst" "5.68533E-5" "00066" "CACNA1C_000014" "g.2795382G>C" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "NM_001129827.1:c.5875G>C" "" "Germline" "" "" "0" "" "" "g.2686216G>C" "" "VUS" "" "0000096491" "0" "50" "12" "2760863" "2760863" "subst" "0" "01601" "CACNA1C_000015" "g.2760863C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2651697C>A" "" "VUS" "" "0000235430" "0" "30" "12" "2714910" "2714910" "subst" "0.00142934" "02335" "CACNA1C_000016" "g.2714910G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "rs114139824" "0" "" "" "g.2605744G>C" "" "likely benign" "" "0000235431" "0" "50" "12" "2800277" "2800277" "subst" "0" "02335" "CACNA1C_000017" "g.2800277G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2691111G>A" "" "VUS" "" "0000235432" "0" "30" "12" "2760967" "2760967" "del" "0" "02335" "CACNA1C_000018" "g.2760967del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2651801del" "" "likely benign" "" "0000247095" "0" "10" "12" "2791132" "2791132" "subst" "0.808019" "02330" "CACNA1C_000067" "g.2791132A>G" "" "" "" "CACNA1C(NM_199460.4):c.5605A>G (p.M1869V), CACNA1C-AS1(NR_045725.1):n.334-4069T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2681966A>G" "" "benign" "" "0000247100" "0" "10" "12" "2791205" "2791205" "subst" "0.999927" "02330" "CACNA1C_000068" "g.2791205A>G" "" "" "" "CACNA1C(NM_199460.4):c.5678A>G (p.K1893R), CACNA1C-AS1(NR_045725.1):n.334-4142T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000247110" "0" "10" "12" "2693676" "2693676" "subst" "2.43831E-5" "02330" "CACNA1C_000071" "g.2693676A>C" "" "" "" "CACNA1C(NM_199460.3):c.2232A>C (p.L744=), CACNA1C(NM_199460.4):c.2232A>C (p.L744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2584510A>C" "" "benign" "" "0000247111" "0" "10" "12" "2764324" "2764324" "subst" "8.12962E-6" "02330" "CACNA1C_000104" "g.2764324A>G" "" "" "" "CACNA1C(NM_199460.4):c.4296A>G (p.K1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2655158A>G" "" "benign" "" "0000247112" "0" "10" "12" "2794932" "2794932" "subst" "0.00219191" "02330" "CACNA1C_000069" "g.2794932A>G" "" "" "" "CACNA1C(NM_199460.4):c.5853A>G (p.Q1951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685766A>G" "" "benign" "" "0000247162" "0" "30" "12" "2760756" "2760756" "subst" "0" "02330" "CACNA1C_000096" "g.2760756A>G" "" "" "" "CACNA1C(NM_001129829.2):c.3962A>G (p.H1321R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651590A>G" "" "likely benign" "" "0000247181" "0" "50" "12" "2719860" "2719860" "subst" "0" "02330" "CACNA1C_000091" "g.2719860A>G" "" "" "" "CACNA1C(NM_199460.3):c.3772A>G (p.M1258V), CACNA1C(NM_199460.4):c.3772A>G (p.M1258V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2610694A>G" "" "VUS" "" "0000247182" "0" "50" "12" "2714260" "2714260" "subst" "0" "02330" "CACNA1C_000088" "g.2714260A>T" "" "" "" "CACNA1C(NM_199460.4):c.3034A>T (p.N1012Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2605094A>T" "" "VUS" "" "0000248403" "0" "10" "12" "2791132" "2791132" "subst" "0.808019" "02325" "CACNA1C_000067" "g.2791132A>G" "" "" "" "CACNA1C(NM_199460.4):c.5605A>G (p.M1869V), CACNA1C-AS1(NR_045725.1):n.334-4069T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2681966A>G" "" "benign" "" "0000248446" "0" "10" "12" "2791205" "2791205" "subst" "0.999927" "02325" "CACNA1C_000068" "g.2791205A>G" "" "" "" "CACNA1C(NM_199460.4):c.5678A>G (p.K1893R), CACNA1C-AS1(NR_045725.1):n.334-4142T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000251506" "0" "10" "12" "2602578" "2602578" "subst" "0.00440195" "02326" "CACNA1C_000043" "g.2602578A>C" "" "" "" "CACNA1C(NM_199460.3):c.1113+26A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2493412A>C" "" "benign" "" "0000252669" "0" "50" "12" "2714846" "2714846" "subst" "0" "02326" "CACNA1C_000090" "g.2714846A>G" "" "" "" "CACNA1C(NM_199460.3):c.3110A>G (p.H1037R), CACNA1C(NM_199460.4):c.3110A>G (p.H1037R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2605680A>G" "" "VUS" "" "0000254934" "0" "30" "12" "2224615" "2224615" "subst" "0" "01943" "CACNA1C_000023" "g.2224615A>G" "" "" "" "CACNA1C(NM_199460.3):c.275A>G (p.Q92R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2115449A>G" "" "likely benign" "" "0000263916" "0" "10" "12" "2602441" "2602441" "subst" "0.000227463" "02330" "CACNA1C_000041" "g.2602441C>T" "" "" "" "CACNA1C(NM_001167623.2):c.1002C>T (p.P334=), CACNA1C(NM_199460.4):c.1002C>T (p.P334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2493275C>T" "" "benign" "" "0000263917" "0" "30" "12" "2224441" "2224441" "subst" "5.27735E-5" "02330" "CACNA1C_000019" "g.2224441C>T" "" "" "" "CACNA1C(NM_199460.4):c.101C>T (p.A34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2115275C>T" "" "likely benign" "" "0000263918" "0" "10" "12" "2224449" "2224449" "subst" "0.00352447" "02330" "CACNA1C_000020" "g.2224449G>A" "" "" "" "CACNA1C(NM_000719.7):c.109G>A (p.(Gly37Arg), p.G37R), CACNA1C(NM_199460.3):c.109G>A (p.G37R), CACNA1C(NM_199460.4):c.109G>A (p.G37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2115283G>A" "" "benign" "" "0000263919" "0" "10" "12" "2613716" "2613716" "subst" "0.0757028" "02330" "CACNA1C_000044" "g.2613716C>T" "" "" "" "CACNA1C(NM_199460.4):c.1114-292C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2504550C>T" "" "benign" "" "0000263920" "0" "10" "12" "2614070" "2614070" "subst" "0.00195595" "02330" "CACNA1C_000046" "g.2614070G>T" "" "" "" "CACNA1C(NM_199460.4):c.1176G>T (p.G392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2504904G>T" "" "benign" "" "0000263921" "0" "50" "12" "2622102" "2622102" "subst" "0" "02330" "CACNA1C_000047" "g.2622102G>A" "" "" "" "CACNA1C(NM_000719.7):c.1342G>A (p.D448N), CACNA1C(NM_199460.4):c.1342G>A (p.D448N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2512936G>A" "" "VUS" "" "0000263922" "0" "50" "12" "2659186" "2659186" "subst" "0.000651811" "02330" "CACNA1C_000050" "g.2659186G>A" "" "" "" "CACNA1C(NM_199460.3):c.1468G>A (p.G490R), CACNA1C(NM_199460.4):c.1468G>A (p.G490R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2550020G>A" "" "VUS" "" "0000263923" "0" "50" "12" "2675602" "2675602" "subst" "0" "02330" "CACNA1C_000051" "g.2675602G>A" "" "" "" "CACNA1C(NM_000719.6):c.1523G>A (p.(Arg508Gln)), CACNA1C(NM_199460.4):c.1523G>A (p.R508Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2566436G>A" "" "VUS" "" "0000263924" "0" "50" "12" "2675637" "2675637" "subst" "0" "02330" "CACNA1C_000053" "g.2675637G>A" "" "" "" "CACNA1C(NM_199460.4):c.1558G>A (p.A520T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2566471G>A" "" "VUS" "" "0000263925" "0" "10" "12" "2690927" "2690927" "subst" "0.000163667" "02330" "CACNA1C_000056" "g.2690927C>T" "" "" "" "CACNA1C(NM_199460.4):c.2067C>T (p.F689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2581761C>T" "" "benign" "" "0000263926" "0" "10" "12" "2224553" "2224553" "subst" "0.00328568" "02330" "CACNA1C_000022" "g.2224553G>A" "" "" "" "CACNA1C(NM_199460.4):c.213G>A (p.A71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2115387G>A" "" "benign" "" "0000263927" "0" "10" "12" "2693801" "2693801" "subst" "6.71417E-5" "02330" "CACNA1C_000072" "g.2693801C>T" "" "" "" "CACNA1C(NM_199460.4):c.2339+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2584635C>T" "" "benign" "" "0000263928" "0" "50" "12" "2694552" "2694552" "subst" "6.98152E-5" "02330" "CACNA1C_000073" "g.2694552C>T" "" "" "" "CACNA1C(NM_199460.4):c.2350C>T (p.P784S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2585386C>T" "" "VUS" "" "0000263929" "0" "10" "12" "2694632" "2694632" "subst" "5.49149E-6" "02330" "CACNA1C_000074" "g.2694632G>T" "" "" "" "CACNA1C(NM_199460.4):c.2430G>T (p.T810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2585466G>T" "" "benign" "" "0000263930" "0" "50" "12" "2694639" "2694639" "subst" "3.45205E-5" "02330" "CACNA1C_000075" "g.2694639G>A" "" "" "" "CACNA1C(NM_000719.6):c.2437G>A (p.(Gly813Arg)), CACNA1C(NM_000719.7):c.2437G>A (p.G813R), CACNA1C(NM_199460.4):c.2437G>A (p.G813R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2585473G>A" "" "VUS" "" "0000263931" "0" "10" "12" "2694651" "2694651" "subst" "0.00237162" "02330" "CACNA1C_000008" "g.2694651C>T" "" "" "" "CACNA1C(NM_000719.7):c.2449C>T (p.(Pro817Ser)), CACNA1C(NM_199460.3):c.2449C>T (p.P817S), CACNA1C(NM_199460.4):c.2449C>T (p.P817S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2585485C>T" "" "benign" "" "0000263932" "0" "10" "12" "2694668" "2694668" "subst" "0.000236265" "02330" "CACNA1C_000076" "g.2694668G>A" "" "" "" "CACNA1C(NM_199460.3):c.2460+6G>A, CACNA1C(NM_199460.4):c.2460+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2585502G>A" "" "benign" "" "0000263933" "0" "90" "12" "2702421" "2702421" "subst" "0" "02330" "CACNA1C_000079" "g.2702421G>A" "" "" "" "CACNA1C(NM_001167623.2):c.2573G>A (p.R858H), CACNA1C(NM_199460.4):c.2573G>A (p.R858H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2593255G>A" "" "pathogenic" "" "0000263934" "0" "70" "12" "2702423" "2702423" "subst" "0" "02330" "CACNA1C_000080" "g.2702423C>T" "" "" "" "CACNA1C(NM_199460.4):c.2575C>T (p.P859S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2593257C>T" "" "likely pathogenic" "" "0000263935" "0" "10" "12" "2705033" "2705033" "subst" "2.853E-5" "02330" "CACNA1C_000082" "g.2705033C>T" "" "" "" "CACNA1C(NM_199460.4):c.2664-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2595867C>T" "" "benign" "" "0000263936" "0" "30" "12" "2706393" "2706396" "del" "0" "02330" "CACNA1C_000084" "g.2706393_2706396del" "" "" "" "CACNA1C(NM_199460.4):c.2794-3_2794delCAGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2597227_2597230del" "" "likely benign" "" "0000263937" "0" "10" "12" "2706391" "2706391" "subst" "4.06547E-6" "02330" "CACNA1C_000083" "g.2706391T>C" "" "" "" "CACNA1C(NM_199460.4):c.2794-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2597225T>C" "" "benign" "" "0000263939" "0" "30" "12" "2224640" "2224640" "subst" "2.45278E-5" "02330" "CACNA1C_000024" "g.2224640G>A" "" "" "" "CACNA1C(NM_199460.4):c.300G>A (p.P100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2115474G>A" "" "likely benign" "" "0000263940" "0" "30" "12" "2711133" "2711133" "subst" "0" "02330" "CACNA1C_000086" "g.2711133G>C" "" "" "" "CACNA1C(NM_199460.4):c.3020+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2601967G>C" "" "likely benign" "" "0000263941" "0" "10" "12" "2714835" "2714835" "subst" "0.00120264" "02330" "CACNA1C_000089" "g.2714835C>T" "" "" "" "CACNA1C(NM_199460.4):c.3109-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2605669C>T" "" "benign" "" "0000263942" "0" "10" "12" "2714877" "2714877" "subst" "3.65497E-5" "02330" "CACNA1C_000058" "g.2714877G>A" "" "" "" "CACNA1C(NM_199460.4):c.3141G>A (p.R1047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2605711G>A" "" "benign" "" "0000263943" "0" "10" "12" "2714969" "2714969" "subst" "0.000410406" "02330" "CACNA1C_000060" "g.2714969G>A" "" "" "" "CACNA1C(NM_001167623.2):c.3156+17G>A, CACNA1C(NM_199460.4):c.3216+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2605803G>A" "" "benign" "" "0000263944" "0" "30" "12" "2716131" "2716131" "subst" "4.06878E-6" "02330" "CACNA1C_000061" "g.2716131C>A" "" "" "" "CACNA1C(NM_199460.4):c.3270-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2606965C>A" "" "likely benign" "" "0000263945" "0" "10" "12" "2716174" "2716174" "subst" "0.000869127" "02330" "CACNA1C_000062" "g.2716174C>T" "" "" "" "CACNA1C(NM_199460.3):c.3294C>T (p.D1098=), CACNA1C(NM_199460.4):c.3294C>T (p.D1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2607008C>T" "" "benign" "" "0000263946" "0" "10" "12" "2717707" "2717707" "subst" "0.00157759" "02330" "CACNA1C_000064" "g.2717707G>A" "" "" "" "CACNA1C(NM_199460.4):c.3447G>A (p.T1149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2608541G>A" "" "benign" "" "0000263947" "0" "10" "12" "2719790" "2719790" "subst" "0.000540066" "02330" "CACNA1C_000066" "g.2719790C>T" "" "" "" "CACNA1C(NM_199460.3):c.3702C>T (p.Y1234=), CACNA1C(NM_199460.4):c.3702C>T (p.Y1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2610624C>T" "" "benign" "" "0000263948" "0" "10" "12" "2229481" "2229481" "subst" "0" "02330" "CACNA1C_000026" "g.2229481C>T" "" "" "" "CACNA1C(NM_199460.4):c.372-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2120315C>T" "" "benign" "" "0000263949" "0" "10" "12" "2229476" "2229476" "subst" "0.0235113" "02330" "CACNA1C_000025" "g.2229476G>A" "" "" "" "CACNA1C(NM_199460.3):c.372-15G>A, CACNA1C(NM_199460.4):c.372-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2120310G>A" "" "benign" "" "0000263950" "0" "10" "12" "2721131" "2721131" "subst" "0.00211591" "02330" "CACNA1C_000092" "g.2721131C>A" "" "" "" "CACNA1C(NM_199460.3):c.3840C>A (p.G1280=), CACNA1C(NM_199460.4):c.3840C>A (p.G1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2611965C>A" "" "benign" "" "0000263951" "0" "10" "12" "2721137" "2721137" "subst" "0.209716" "02330" "CACNA1C_000093" "g.2721137C>T" "" "" "" "CACNA1C(NM_000719.7):c.3786C>T (p.F1262=), CACNA1C(NM_199460.4):c.3846C>T (p.F1282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2611971C>T" "" "benign" "" "0000263952" "0" "30" "12" "2760743" "2760743" "subst" "0" "02330" "CACNA1C_000095" "g.2760743C>T" "" "" "" "CACNA1C(NM_001129829.2):c.3949C>T (p.P1317S, p.(Pro1317Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651577C>T" "" "likely benign" "" "0000263953" "0" "10" "12" "2760761" "2760761" "subst" "6.90877E-5" "02330" "CACNA1C_000097" "g.2760761C>G" "" "" "" "CACNA1C(NM_001129829.2):c.3967C>G (p.P1323A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651595C>G" "" "benign" "" "0000263954" "0" "10" "12" "2760762" "2760762" "subst" "2.43817E-5" "02330" "CACNA1C_000098" "g.2760762C>G" "" "" "" "CACNA1C(NM_001129829.2):c.3968C>G (p.P1323R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651596C>G" "" "benign" "" "0000263955" "0" "10" "12" "2742893" "2742893" "subst" "1.23055E-5" "02330" "CACNA1C_000094" "g.2742893G>A" "" "" "" "CACNA1C(NM_199460.4):c.3972+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2633727G>A" "" "benign" "" "0000263956" "0" "30" "12" "2760794" "2760794" "subst" "0.000235552" "02330" "CACNA1C_000099" "g.2760794G>A" "" "" "" "CACNA1C(NM_001129829.2):c.4000G>A (p.D1334N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651628G>A" "" "likely benign" "" "0000263957" "0" "10" "12" "2760796" "2760796" "subst" "5.27945E-5" "02330" "CACNA1C_000100" "g.2760796C>T" "" "" "" "CACNA1C(NM_001129829.2):c.4002C>T (p.D1334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651630C>T" "" "benign" "" "0000263958" "0" "30" "12" "2760808" "2760808" "subst" "0.000800052" "02330" "CACNA1C_000101" "g.2760808C>T" "" "" "" "CACNA1C(NM_199460.4):c.4092C>T (p.N1364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651642C>T" "" "likely benign" "" "0000263959" "0" "10" "12" "2760898" "2760898" "subst" "0.0478192" "02330" "CACNA1C_000102" "g.2760898C>T" "" "" "" "CACNA1C(NM_000719.7):c.4038C>T (p.(Ile1346=), p.I1346=), CACNA1C(NM_199460.4):c.4182C>T (p.I1394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651732C>T" "" "benign" "" "0000263960" "0" "10" "12" "2764422" "2764422" "subst" "1.6649E-5" "02330" "CACNA1C_000105" "g.2764422T>G" "" "" "" "CACNA1C(NM_199460.4):c.4376+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2655256T>G" "" "benign" "" "0000263961" "0" "10" "12" "2774833" "2774833" "subst" "0.0121616" "02330" "CACNA1C_000106" "g.2774833T>C" "" "" "" "CACNA1C(NM_199460.4):c.4629T>C (p.D1543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2665667T>C" "" "benign" "" "0000263962" "0" "10" "12" "2778090" "2778090" "subst" "0.000365976" "02330" "CACNA1C_000107" "g.2778090C>T" "" "" "" "CACNA1C(NM_199460.4):c.4768-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2668924C>T" "" "benign" "" "0000263963" "0" "10" "12" "2229609" "2229609" "subst" "0" "02330" "CACNA1C_000027" "g.2229609T>C" "" "" "" "CACNA1C(NM_199460.4):c.477+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2120443T>C" "" "benign" "" "0000263964" "0" "10" "12" "2778214" "2778214" "subst" "8.94331E-5" "02330" "CACNA1C_000109" "g.2778214G>A" "" "" "" "CACNA1C(NM_199460.4):c.4870+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2669048G>A" "" "benign" "" "0000263965" "0" "10" "12" "2786253" "2786253" "subst" "0.000434259" "02330" "CACNA1C_000110" "g.2786253G>A" "" "" "" "CACNA1C(NM_199460.4):c.4973-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2677087G>A" "" "benign" "" "0000263966" "0" "30" "12" "2786372" "2786372" "subst" "4.89153E-5" "02330" "CACNA1C_000111" "g.2786372C>T" "" "" "" "CACNA1C(NM_199460.4):c.5085C>T (p.N1695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2677206C>T" "" "likely benign" "" "0000263967" "0" "30" "12" "2786373" "2786373" "subst" "6.92989E-5" "02330" "CACNA1C_000112" "g.2786373G>A" "" "" "" "CACNA1C(NM_199460.4):c.5086G>A (p.A1696T), CACNA1C-AS1(NR_045725.1):n.1024C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2677207G>A" "" "likely benign" "" "0000263968" "0" "10" "12" "2786404" "2786404" "subst" "0.000901206" "02330" "CACNA1C_000113" "g.2786404G>A" "" "" "" "CACNA1C(NM_001167623.2):c.4956+17G>A, CACNA1C(NM_199460.4):c.5100+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2677238G>A" "" "benign" "" "0000263969" "0" "10" "12" "2558186" "2558186" "subst" "0.176164" "02330" "CACNA1C_000028" "g.2558186G>A" "" "" "" "CACNA1C(NM_199460.4):c.522G>A (p.A174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2449020G>A" "" "benign" "" "0000263970" "0" "10" "12" "2787036" "2787036" "subst" "0.000105753" "02330" "CACNA1C_000114" "g.2787036G>A" "" "" "" "CACNA1C(NM_199460.4):c.5235+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2677870G>A" "" "benign" "" "0000263971" "0" "10" "12" "2788615" "2788615" "subst" "0.00690726" "02330" "CACNA1C_000115" "g.2788615C>T" "" "" "" "CACNA1C(NM_000719.7):c.5097C>T (p.(Ala1699=)), CACNA1C(NM_199460.4):c.5241C>T (p.A1747=), CACNA1C-AS1(NR_045725.1):n.334-1552G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679449C>T" "" "benign" "" "0000263972" "0" "30" "12" "2788637" "2788637" "subst" "0.000226332" "02330" "CACNA1C_000116" "g.2788637G>A" "" "" "" "CACNA1C(NM_199460.3):c.5263G>A (p.V1755I), CACNA1C(NM_199460.4):c.5263G>A (p.V1755I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679471G>A" "" "likely benign" "" "0000263973" "0" "10" "12" "2788657" "2788657" "subst" "0.00141682" "02330" "CACNA1C_000117" "g.2788657C>T" "" "" "" "CACNA1C(NM_199460.4):c.5283C>T (p.D1761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679491C>T" "" "benign" "" "0000263974" "0" "30" "12" "2788667" "2788667" "subst" "7.10014E-5" "02330" "CACNA1C_000118" "g.2788667G>A" "" "" "" "CACNA1C(NM_199460.4):c.5293G>A (p.A1765T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679501G>A" "" "likely benign" "" "0000263975" "0" "10" "12" "2788717" "2788717" "subst" "0.000237958" "02330" "CACNA1C_000119" "g.2788717G>A" "" "" "" "CACNA1C(NM_199460.3):c.5343G>A (p.A1781=), CACNA1C(NM_199460.4):c.5343G>A (p.A1781=), CACNA1C-AS1(NR_045725.1):n.334-1654C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679551G>A" "" "benign" "" "0000263976" "0" "10" "12" "2788732" "2788732" "subst" "0.00129368" "02330" "CACNA1C_000120" "g.2788732C>A" "" "" "" "CACNA1C(NM_199460.4):c.5358C>A (p.G1786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679566C>A" "" "benign" "" "0000263977" "0" "10" "12" "2788810" "2788810" "subst" "0.0447748" "02330" "CACNA1C_000123" "g.2788810C>T" "" "" "" "CACNA1C(NM_000719.7):c.5292C>T (p.(Asn1764=)), CACNA1C(NM_199460.4):c.5436C>T (p.N1812=), CACNA1C-AS1(NR_045725.1):n.334-1747G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679644C>T" "" "benign" "" "0000263978" "0" "10" "12" "2788878" "2788878" "subst" "0.000925164" "02330" "CACNA1C_000124" "g.2788878C>T" "" "" "" "CACNA1C(NM_199460.4):c.5504C>T (p.T1835M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679712C>T" "" "benign" "" "0000263979" "0" "10" "12" "2788879" "2788879" "subst" "0.677694" "02330" "CACNA1C_000125" "g.2788879G>A" "" "" "" "CACNA1C(NM_000719.7):c.5361G>A (p.T1787=), CACNA1C(NM_199460.4):c.5505G>A (p.T1835=), CACNA1C-AS1(NR_045725.1):n.334-1816C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679713G>A" "" "benign" "" "0000263980" "0" "10" "12" "2788901" "2788901" "subst" "0.00371732" "02330" "CACNA1C_000126" "g.2788901G>A" "" "" "" "CACNA1C(NM_199460.4):c.5527G>A (p.G1843R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679735G>A" "" "benign" "" "0000263981" "0" "10" "12" "2788942" "2788942" "subst" "0" "02330" "CACNA1C_000127" "g.2788942G>A" "" "" "" "CACNA1C(NM_199460.4):c.5568G>A (p.A1856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679776G>A" "" "benign" "" "0000263982" "0" "10" "12" "2791130" "2791130" "subst" "0.777893" "02330" "CACNA1C_000130" "g.2791130C>T" "" "" "" "CACNA1C(NM_199460.4):c.5603C>T (p.P1868L), CACNA1C-AS1(NR_045725.1):n.334-4067G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2681964C>T" "" "benign" "" "0000263983" "0" "30" "12" "2789736" "2789736" "subst" "2.46339E-5" "02330" "CACNA1C_000129" "g.2789736T>A" "" "" "" "CACNA1C(NM_001167625.2):c.5619T>A (p.H1873Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2680570T>A" "" "likely benign" "" "0000263984" "0" "30" "12" "2791217" "2791217" "subst" "1.64334E-5" "02330" "CACNA1C_000131" "g.2791217C>G" "" "" "" "CACNA1C(NM_199460.4):c.5690C>G (p.S1897C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2682051C>G" "" "likely benign" "" "0000263985" "0" "10" "12" "2791722" "2791722" "subst" "0.000513288" "02330" "CACNA1C_000132" "g.2791722C>T" "" "" "" "CACNA1C(NM_199460.3):c.5700C>T (p.H1900=), CACNA1C(NM_199460.4):c.5700C>T (p.H1900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2682556C>T" "" "benign" "" "0000263986" "0" "10" "12" "2791821" "2791821" "subst" "5.75289E-5" "02330" "CACNA1C_000133" "g.2791821G>A" "" "" "" "CACNA1C(NM_001167623.2):c.5550G>A (p.E1850=), CACNA1C(NM_199460.4):c.5799G>A (p.E1933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2682655G>A" "" "benign" "" "0000263987" "0" "10" "12" "2794921" "2794921" "subst" "0" "02330" "CACNA1C_000134" "g.2794921G>A" "" "" "" "CACNA1C(NM_000719.6):c.5593G>A (p.(Glu1865Lys)), CACNA1C(NM_199460.3):c.5842G>A (p.E1948K), CACNA1C(NM_199460.4):c.5842G>A (p.E1948K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685755G>A" "" "benign" "" "0000263988" "0" "10" "12" "2794937" "2794937" "subst" "0" "02330" "CACNA1C_000135" "g.2794937C>T" "" "" "" "CACNA1C(NM_199460.4):c.5858C>T (p.T1953M), CACNA1C-AS1(NR_045725.1):n.333+4369G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685771C>T" "" "benign" "" "0000263989" "0" "10" "12" "2794965" "2794965" "subst" "1.21986E-5" "02330" "CACNA1C_000136" "g.2794965C>A" "" "" "" "CACNA1C(NM_199460.4):c.5886C>A (p.I1962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685799C>A" "" "benign" "" "0000263990" "0" "10" "12" "2794977" "2794977" "subst" "0.0207788" "02330" "CACNA1C_000137" "g.2794977G>A" "" "" "" "CACNA1C(NM_000719.7):c.5649G>A (p.P1883=), CACNA1C(NM_199460.4):c.5898G>A (p.P1966=), CACNA1C-AS1(NR_045725.1):n.333+4329C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685811G>A" "" "benign" "" "0000263991" "0" "10" "12" "2794993" "2794993" "subst" "0.0100995" "02330" "CACNA1C_000138" "g.2794993C>T" "" "" "" "CACNA1C(NM_199460.4):c.5914C>T (p.R1972C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685827C>T" "" "benign" "" "0000263992" "0" "10" "12" "2795019" "2795019" "subst" "0.00756424" "02330" "CACNA1C_000139" "g.2795019C>T" "" "" "" "CACNA1C(NM_000719.7):c.5680+11C>T, CACNA1C(NM_199460.3):c.5929+11C>T, CACNA1C(NM_199460.4):c.5929+11C>T, CACNA1C-AS1(NR_045725.1):n.333+4287G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685853C>T" "" "benign" "" "0000263993" "0" "10" "12" "2795023" "2795023" "subst" "0.00395779" "02330" "CACNA1C_000140" "g.2795023C>T" "" "" "" "CACNA1C(NM_000719.7):c.5680+15C>T, CACNA1C(NM_199460.4):c.5929+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685857C>T" "" "benign" "" "0000263994" "0" "10" "12" "2795024" "2795024" "subst" "0.000216401" "02330" "CACNA1C_000141" "g.2795024G>A" "" "" "" "CACNA1C(NM_199460.4):c.5929+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685858G>A" "" "benign" "" "0000263995" "0" "10" "12" "2558279" "2558279" "subst" "5.35074E-5" "02330" "CACNA1C_000029" "g.2558279G>T" "" "" "" "CACNA1C(NM_199460.4):c.615G>T (p.V205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2449113G>T" "" "benign" "" "0000263996" "0" "10" "12" "2558298" "2558298" "subst" "0.250799" "02330" "CACNA1C_000030" "g.2558298G>A" "" "" "" "CACNA1C(NM_199460.4):c.617+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2449132G>A" "" "benign" "" "0000263997" "0" "10" "12" "2558300" "2558300" "subst" "0.252547" "02330" "CACNA1C_000031" "g.2558300T>C" "" "" "" "CACNA1C(NM_199460.4):c.617+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2449134T>C" "" "benign" "" "0000263998" "0" "50" "12" "2797944" "2797944" "subst" "8.45101E-5" "02330" "CACNA1C_000143" "g.2797944C>G" "" "" "" "CACNA1C(NM_000719.7):c.6116C>G (p.A2039G), CACNA1C(NM_199460.3):c.6365C>G (p.A2122G), CACNA1C(NM_199460.4):c.6365C>G (p.A2122G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2688778C>G" "" "VUS" "" "0000263999" "0" "10" "12" "2797957" "2797957" "subst" "3.85379E-5" "02330" "CACNA1C_000144" "g.2797957G>A" "" "" "" "CACNA1C(NM_199460.4):c.6366+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2688791G>A" "" "benign" "" "0000264000" "0" "10" "12" "2800290" "2800290" "subst" "9.07748E-5" "02330" "CACNA1C_000070" "g.2800290G>A" "" "" "" "CACNA1C(NM_199460.4):c.6591G>A (p.A2197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2691124G>A" "" "benign" "" "0000264001" "0" "10" "12" "2595283" "2595283" "subst" "0.00222984" "02330" "CACNA1C_000034" "g.2595283C>T" "" "" "" "CACNA1C(NM_199460.4):c.771C>T (p.V257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2486117C>T" "" "benign" "" "0000264002" "0" "10" "12" "2595340" "2595340" "subst" "6.50232E-5" "02330" "CACNA1C_000036" "g.2595340G>A" "" "" "" "CACNA1C(NM_199460.4):c.828G>A (p.L276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2486174G>A" "" "benign" "" "0000264003" "0" "30" "12" "2595423" "2595423" "subst" "0.000477508" "02330" "CACNA1C_000037" "g.2595423T>C" "" "" "" "CACNA1C(NM_001167623.2):c.911T>C (p.I304T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2486257T>C" "" "likely benign" "" "0000264004" "0" "10" "12" "2595440" "2595444" "del" "0" "02330" "CACNA1C_000038" "g.2595440_2595444del" "" "" "" "CACNA1C(NM_199460.4):c.916+12_916+16delAGGCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2486274_2486278del" "" "benign" "" "0000264005" "0" "10" "12" "2602405" "2602405" "subst" "0.000703687" "02330" "CACNA1C_000039" "g.2602405C>T" "" "" "" "CACNA1C(NM_199460.3):c.966C>T (p.H322=), CACNA1C(NM_199460.4):c.966C>T (p.H322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2493239C>T" "" "benign" "" "0000264006" "0" "10" "12" "2602429" "2602429" "subst" "2.03146E-5" "02330" "CACNA1C_000040" "g.2602429G>A" "" "" "" "CACNA1C(NM_199460.4):c.990G>A (p.T330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2493263G>A" "" "benign" "" "0000264008" "0" "10" "12" "2797884" "2797884" "subst" "0" "02330" "CACNA1C_000142" "g.2797884C>G" "" "" "" "CACNA1C-AS1(NR_045725.1):n.333+1422G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2688718C>G" "" "benign" "" "0000266428" "0" "30" "12" "2702364" "2702364" "subst" "0" "02325" "CACNA1C_000078" "g.2702364C>T" "" "" "" "CACNA1C(NM_199460.4):c.2531-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2593198C>T" "" "likely benign" "" "0000266429" "0" "30" "12" "2721131" "2721131" "subst" "0.00211591" "02325" "CACNA1C_000092" "g.2721131C>A" "" "" "" "CACNA1C(NM_199460.3):c.3840C>A (p.G1280=), CACNA1C(NM_199460.4):c.3840C>A (p.G1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2611965C>A" "" "likely benign" "" "0000266430" "0" "10" "12" "2788879" "2788879" "subst" "0.677694" "02325" "CACNA1C_000125" "g.2788879G>A" "" "" "" "CACNA1C(NM_000719.7):c.5361G>A (p.T1787=), CACNA1C(NM_199460.4):c.5505G>A (p.T1835=), CACNA1C-AS1(NR_045725.1):n.334-1816C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679713G>A" "" "benign" "" "0000266431" "0" "10" "12" "2791130" "2791130" "subst" "0.777893" "02325" "CACNA1C_000130" "g.2791130C>T" "" "" "" "CACNA1C(NM_199460.4):c.5603C>T (p.P1868L), CACNA1C-AS1(NR_045725.1):n.334-4067G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2681964C>T" "" "benign" "" "0000266432" "0" "30" "12" "2794937" "2794937" "subst" "0" "02325" "CACNA1C_000135" "g.2794937C>T" "" "" "" "CACNA1C(NM_199460.4):c.5858C>T (p.T1953M), CACNA1C-AS1(NR_045725.1):n.333+4369G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685771C>T" "" "likely benign" "" "0000269564" "0" "10" "12" "2224449" "2224449" "subst" "0.00352447" "02326" "CACNA1C_000020" "g.2224449G>A" "" "" "" "CACNA1C(NM_000719.7):c.109G>A (p.(Gly37Arg), p.G37R), CACNA1C(NM_199460.3):c.109G>A (p.G37R), CACNA1C(NM_199460.4):c.109G>A (p.G37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2115283G>A" "" "benign" "" "0000269565" "0" "30" "12" "2602575" "2602575" "subst" "0.00418852" "02326" "CACNA1C_000042" "g.2602575C>A" "" "" "" "CACNA1C(NM_199460.3):c.1113+23C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2493409C>A" "" "likely benign" "" "0000269566" "0" "70" "12" "2675631" "2675631" "subst" "0" "02326" "CACNA1C_000052" "g.2675631C>A" "" "" "" "CACNA1C(NM_199460.3):c.1552C>A (p.R518S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2566465C>A" "" "likely pathogenic" "" "0000269567" "0" "30" "12" "2676973" "2676973" "subst" "0" "02326" "CACNA1C_000055" "g.2676973C>T" "" "" "" "CACNA1C(NM_199460.3):c.1895+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2567807C>T" "" "likely benign" "" "0000269568" "0" "30" "12" "2694651" "2694651" "subst" "0.00237162" "02326" "CACNA1C_000008" "g.2694651C>T" "" "" "" "CACNA1C(NM_000719.7):c.2449C>T (p.(Pro817Ser)), CACNA1C(NM_199460.3):c.2449C>T (p.P817S), CACNA1C(NM_199460.4):c.2449C>T (p.P817S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2585485C>T" "" "likely benign" "" "0000269569" "0" "10" "12" "2694668" "2694668" "subst" "0.000236265" "02326" "CACNA1C_000076" "g.2694668G>A" "" "" "" "CACNA1C(NM_199460.3):c.2460+6G>A, CACNA1C(NM_199460.4):c.2460+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2585502G>A" "" "benign" "" "0000269570" "0" "30" "12" "2695083" "2695083" "subst" "0.00010701" "02326" "CACNA1C_000077" "g.2695083C>T" "" "" "" "CACNA1C(NM_199460.3):c.2530+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2585917C>T" "" "likely benign" "" "0000269571" "0" "70" "12" "2702427" "2702427" "subst" "1.62861E-5" "02326" "CACNA1C_000081" "g.2702427G>A" "" "" "" "CACNA1C(NM_199460.3):c.2579G>A (p.R860Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2593261G>A" "" "likely pathogenic" "" "0000269572" "0" "30" "12" "2714204" "2714204" "subst" "0" "02326" "CACNA1C_000087" "g.2714204G>A" "" "" "" "CACNA1C(NM_199460.3):c.3021-43G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2605038G>A" "" "likely benign" "" "0000269573" "0" "10" "12" "2229476" "2229476" "subst" "0.0235113" "02326" "CACNA1C_000025" "g.2229476G>A" "" "" "" "CACNA1C(NM_199460.3):c.372-15G>A, CACNA1C(NM_199460.4):c.372-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2120310G>A" "" "benign" "" "0000269574" "0" "10" "12" "2795019" "2795019" "subst" "0.00756424" "02326" "CACNA1C_000139" "g.2795019C>T" "" "" "" "CACNA1C(NM_000719.7):c.5680+11C>T, CACNA1C(NM_199460.3):c.5929+11C>T, CACNA1C(NM_199460.4):c.5929+11C>T, CACNA1C-AS1(NR_045725.1):n.333+4287G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685853C>T" "" "benign" "" "0000272454" "0" "30" "12" "2614020" "2614020" "subst" "0" "01943" "CACNA1C_000045" "g.2614020G>T" "" "" "" "CACNA1C(NM_199460.3):c.1126G>T (p.V376L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2504854G>T" "" "likely benign" "" "0000272455" "0" "30" "12" "2224458" "2224458" "subst" "0" "01943" "CACNA1C_000021" "g.2224458C>G" "" "" "" "CACNA1C(NM_199460.3):c.118C>G (p.P40A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2115292C>G" "" "likely benign" "" "0000272456" "0" "10" "12" "2659082" "2659082" "subst" "0.241656" "01943" "CACNA1C_000048" "g.2659082G>T" "" "" "" "CACNA1C(NM_199460.3):c.1391-27G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2549916G>T" "" "benign" "" "0000272457" "0" "50" "12" "2659186" "2659186" "subst" "0.000651811" "01943" "CACNA1C_000050" "g.2659186G>A" "" "" "" "CACNA1C(NM_199460.3):c.1468G>A (p.G490R), CACNA1C(NM_199460.4):c.1468G>A (p.G490R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2550020G>A" "" "VUS" "" "0000272458" "0" "50" "12" "2676818" "2676818" "subst" "3.69255E-5" "01943" "CACNA1C_000054" "g.2676818G>A" "" "" "" "CACNA1C(NM_001167623.2):c.1753G>A (p.V585M), CACNA1C(NM_199460.3):c.1753G>A (p.V585M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2567652G>A" "" "VUS" "" "0000272459" "0" "30" "12" "2690933" "2690933" "subst" "0" "01943" "CACNA1C_000057" "g.2690933C>T" "" "" "" "CACNA1C(NM_199460.3):c.2073C>T (p.N691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2581767C>T" "" "likely benign" "" "0000272460" "0" "30" "12" "2719715" "2719715" "subst" "5.30032E-5" "01943" "CACNA1C_000065" "g.2719715C>T" "" "" "" "CACNA1C(NM_001167623.2):c.3567C>T (p.C1189=), CACNA1C(NM_199460.3):c.3627C>T (p.C1209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2610549C>T" "" "likely benign" "" "0000272461" "0" "30" "12" "2719790" "2719790" "subst" "0.000540066" "01943" "CACNA1C_000066" "g.2719790C>T" "" "" "" "CACNA1C(NM_199460.3):c.3702C>T (p.Y1234=), CACNA1C(NM_199460.4):c.3702C>T (p.Y1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2610624C>T" "" "likely benign" "" "0000272462" "0" "30" "12" "2721131" "2721131" "subst" "0.00211591" "01943" "CACNA1C_000092" "g.2721131C>A" "" "" "" "CACNA1C(NM_199460.3):c.3840C>A (p.G1280=), CACNA1C(NM_199460.4):c.3840C>A (p.G1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2611965C>A" "" "likely benign" "" "0000272463" "0" "30" "12" "2763054" "2763054" "subst" "5.2904E-5" "01943" "CACNA1C_000103" "g.2763054G>A" "" "" "" "CACNA1C(NM_199460.3):c.4272G>A (p.V1424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2653888G>A" "" "likely benign" "" "0000272464" "0" "50" "12" "2778135" "2778135" "subst" "4.06204E-6" "01943" "CACNA1C_000108" "g.2778135G>A" "" "" "" "CACNA1C(NM_199460.3):c.4804G>A (p.G1602R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2668969G>A" "" "VUS" "" "0000272465" "0" "30" "12" "2788717" "2788717" "subst" "0.000237958" "01943" "CACNA1C_000119" "g.2788717G>A" "" "" "" "CACNA1C(NM_199460.3):c.5343G>A (p.A1781=), CACNA1C(NM_199460.4):c.5343G>A (p.A1781=), CACNA1C-AS1(NR_045725.1):n.334-1654C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679551G>A" "" "likely benign" "" "0000272466" "0" "30" "12" "2788795" "2788795" "subst" "2.45511E-5" "01943" "CACNA1C_000121" "g.2788795G>A" "" "" "" "CACNA1C(NM_199460.3):c.5421G>A (p.S1807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679629G>A" "" "likely benign" "" "0000272467" "0" "50" "12" "2788802" "2788802" "subst" "9.41388E-5" "01943" "CACNA1C_000122" "g.2788802G>C" "" "" "" "CACNA1C(NM_199460.3):c.5428G>C (p.G1810R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2679636G>C" "" "VUS" "" "0000272468" "0" "30" "12" "2789626" "2789626" "subst" "0" "01943" "CACNA1C_000128" "g.2789626C>T" "" "" "" "CACNA1C(NM_001167625.1):c.5509C>T (p.L1837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2680460C>T" "" "likely benign" "" "0000272469" "0" "10" "12" "2794921" "2794921" "subst" "0" "01943" "CACNA1C_000134" "g.2794921G>A" "" "" "" "CACNA1C(NM_000719.6):c.5593G>A (p.(Glu1865Lys)), CACNA1C(NM_199460.3):c.5842G>A (p.E1948K), CACNA1C(NM_199460.4):c.5842G>A (p.E1948K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2685755G>A" "" "benign" "" "0000272470" "0" "30" "12" "2566726" "2566726" "subst" "0" "01943" "CACNA1C_000032" "g.2566726C>T" "" "" "" "CACNA1C(NM_199460.3):c.618-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2457560C>T" "" "likely benign" "" "0000322618" "0" "50" "12" "2566733" "2566733" "subst" "9.03454E-5" "01804" "CACNA1C_000033" "g.2566733G>A" "" "" "" "CACNA1C(NM_000719.6):c.618G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2457567G>A" "" "VUS" "" "0000322619" "0" "50" "12" "2595327" "2595327" "subst" "0" "01804" "CACNA1C_000035" "g.2595327C>T" "" "" "" "CACNA1C(NM_199460.2):c.815C>T (p.(Ala272Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2486161C>T" "" "VUS" "" "0000322620" "0" "50" "12" "2659171" "2659171" "subst" "0" "01804" "CACNA1C_000049" "g.2659171G>A" "" "" "" "CACNA1C(NM_000719.6):c.1453G>A (p.(Glu485Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2550005G>A" "" "VUS" "" "0000322621" "0" "50" "12" "2694639" "2694639" "subst" "3.45205E-5" "01804" "CACNA1C_000075" "g.2694639G>A" "" "" "" "CACNA1C(NM_000719.6):c.2437G>A (p.(Gly813Arg)), CACNA1C(NM_000719.7):c.2437G>A (p.G813R), CACNA1C(NM_199460.4):c.2437G>A (p.G813R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2585473G>A" "" "VUS" "" "0000322623" "0" "30" "12" "2714893" "2714893" "subst" "0" "01804" "CACNA1C_000059" "g.2714893G>A" "" "" "" "CACNA1C(NM_000719.6):c.3097G>A (p.(Val1033Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2605727G>A" "" "likely benign" "" "0000322624" "0" "50" "12" "2716271" "2716271" "subst" "8.15401E-6" "01804" "CACNA1C_000063" "g.2716271G>A" "" "" "" "CACNA1C(NM_000719.6):c.3331G>A (p.(Val1111Ile)), CACNA1C(NM_000719.7):c.3331G>A (p.V1111I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2607105G>A" "" "VUS" "" "0000405534" "0" "50" "12" "2702421" "2702421" "subst" "0" "01601" "CACNA1C_000079" "g.2702421G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2593255G>A" "" "pathogenic" "" "0000547468" "0" "30" "12" "2162764" "2162764" "subst" "0" "02327" "CACNA1C_000145" "g.2162764G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053598G>A" "" "likely benign" "" "0000547613" "0" "30" "12" "2224449" "2224449" "subst" "0.00352447" "01804" "CACNA1C_000020" "g.2224449G>A" "" "" "" "CACNA1C(NM_000719.7):c.109G>A (p.(Gly37Arg), p.G37R), CACNA1C(NM_199460.3):c.109G>A (p.G37R), CACNA1C(NM_199460.4):c.109G>A (p.G37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115283G>A" "" "likely benign" "" "0000547614" "0" "10" "12" "2224449" "2224449" "subst" "0.00352447" "02327" "CACNA1C_000020" "g.2224449G>A" "" "" "" "CACNA1C(NM_000719.7):c.109G>A (p.(Gly37Arg), p.G37R), CACNA1C(NM_199460.3):c.109G>A (p.G37R), CACNA1C(NM_199460.4):c.109G>A (p.G37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115283G>A" "" "benign" "" "0000547615" "0" "10" "12" "2224511" "2224511" "subst" "0.0205921" "02330" "CACNA1C_000146" "g.2224511C>T" "" "" "" "CACNA1C(NM_000719.7):c.171C>T (p.(Asp57=)), CACNA1C(NM_199460.4):c.171C>T (p.D57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115345C>T" "" "benign" "" "0000547616" "0" "10" "12" "2229476" "2229476" "subst" "0.0235113" "02327" "CACNA1C_000025" "g.2229476G>A" "" "" "" "CACNA1C(NM_199460.3):c.372-15G>A, CACNA1C(NM_199460.4):c.372-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2120310G>A" "" "benign" "" "0000547617" "0" "50" "12" "2229586" "2229586" "subst" "0" "02325" "CACNA1C_000147" "g.2229586A>G" "" "" "" "CACNA1C(NM_199460.4):c.467A>G (p.N156S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2120420A>G" "" "VUS" "" "0000547657" "0" "50" "12" "2558177" "2558177" "subst" "2.47353E-5" "02330" "CACNA1C_000148" "g.2558177G>A" "" "" "" "CACNA1C(NM_199460.4):c.513G>A (p.T171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2449011G>A" "" "VUS" "" "0000547658" "0" "50" "12" "2558227" "2558227" "subst" "0" "02326" "CACNA1C_000149" "g.2558227A>G" "" "" "" "CACNA1C(NM_199460.3):c.563A>G (p.N188S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2449061A>G" "" "VUS" "" "0000547659" "0" "10" "12" "2558243" "2558243" "subst" "8.47377E-5" "02330" "CACNA1C_000150" "g.2558243C>T" "" "" "" "CACNA1C(NM_199460.4):c.579C>T (p.N193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2449077C>T" "" "benign" "" "0000547661" "0" "30" "12" "2595304" "2595304" "subst" "4.10058E-6" "02326" "CACNA1C_000151" "g.2595304C>A" "" "" "" "CACNA1C(NM_000719.7):c.792C>A (p.A264=), CACNA1C(NM_199460.3):c.792C>A (p.A264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2486138C>A" "" "likely benign" "" "0000547664" "0" "50" "12" "2602410" "2602410" "subst" "0" "02329" "CACNA1C_000154" "g.2602410G>A" "" "" "" "CACNA1C(NM_199460.4):c.971G>A (p.R324Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2493244G>A" "" "VUS" "" "0000547665" "0" "10" "12" "2602423" "2602423" "subst" "0.000117854" "02330" "CACNA1C_000155" "g.2602423C>T" "" "" "" "CACNA1C(NM_199460.3):c.984C>T (p.N328=), CACNA1C(NM_199460.4):c.984C>T (p.N328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2493257C>T" "" "benign" "" "0000547667" "0" "30" "12" "2602537" "2602537" "subst" "8.12995E-6" "02327" "CACNA1C_000157" "g.2602537G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2493371G>A" "" "likely benign" "" "0000547668" "0" "90" "12" "2613692" "2613692" "subst" "0" "02326" "CACNA1C_000158" "g.2613692G>A" "" "" "" "CACNA1C(NM_001167625.1):c.1204G>A (p.G402S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2504526G>A" "" "pathogenic" "" "0000547669" "0" "30" "12" "2614070" "2614070" "subst" "0" "02327" "CACNA1C_000159" "g.2614070G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2504904G>A" "" "likely benign" "" "0000547670" "0" "10" "12" "2614070" "2614070" "subst" "0.00195595" "02327" "CACNA1C_000046" "g.2614070G>T" "" "" "" "CACNA1C(NM_199460.4):c.1176G>T (p.G392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2504904G>T" "" "benign" "" "0000547671" "0" "90" "12" "2614110" "2614110" "subst" "0" "02327" "CACNA1C_000160" "g.2614110G>A" "" "" "" "CACNA1C(NM_000719.6):c.1216G>A (p.(Gly406Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2504944G>A" "" "pathogenic" "" "0000547672" "0" "10" "12" "2614121" "2614121" "subst" "2.07997E-5" "02330" "CACNA1C_000161" "g.2614121A>C" "" "" "" "CACNA1C(NM_199460.4):c.1217+10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2504955A>C" "" "benign" "" "0000547673" "0" "10" "12" "2614124" "2614124" "subst" "3.37154E-5" "02330" "CACNA1C_000162" "g.2614124A>G" "" "" "" "CACNA1C(NM_199460.4):c.1217+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2504958A>G" "" "benign" "" "0000547674" "0" "10" "12" "2622092" "2622092" "subst" "3.71557E-5" "02330" "CACNA1C_000163" "g.2622092C>T" "" "" "" "CACNA1C(NM_199460.4):c.1332C>T (p.A444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2512926C>T" "" "benign" "" "0000547676" "0" "50" "12" "2659199" "2659199" "subst" "0" "02325" "CACNA1C_000164" "g.2659199C>T" "" "" "" "CACNA1C(NM_000719.6):c.1481C>T (p.(Ala494Val)), CACNA1C(NM_001167623.2):c.1481C>T (p.A494V), CACNA1C(NM_199460.4):c.1481C>T (p.A494V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2550033C>T" "" "VUS" "" "0000547680" "0" "10" "12" "2675603" "2675603" "subst" "5.08958E-5" "02330" "CACNA1C_000165" "g.2675603G>A" "" "" "" "CACNA1C(NM_199460.4):c.1524G>A (p.R508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2566437G>A" "" "benign" "" "0000547682" "0" "50" "12" "2675634" "2675634" "subst" "0" "01943" "CACNA1C_000167" "g.2675634G>A" "" "" "" "CACNA1C(NM_199460.3):c.1555G>A (p.A519T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2566468G>A" "" "VUS" "" "0000547683" "0" "10" "12" "2675678" "2675678" "subst" "0" "02330" "CACNA1C_000168" "g.2675678G>A" "" "" "" "CACNA1C(NM_199460.4):c.1599G>A (p.L533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2566512G>A" "" "benign" "" "0000547684" "0" "10" "12" "2676716" "2676716" "subst" "0" "02330" "CACNA1C_000169" "g.2676716C>G" "" "" "" "CACNA1C(NM_199460.4):c.1670-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2567550C>G" "" "benign" "" "0000547689" "0" "30" "12" "2693661" "2693661" "subst" "0" "02330" "CACNA1C_000170" "g.2693661A>C" "" "" "" "CACNA1C(NM_199460.4):c.2225-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2584495A>C" "" "likely benign" "" "0000547690" "0" "10" "12" "2693803" "2693803" "subst" "0.0020757" "02330" "CACNA1C_000171" "g.2693803C>A" "" "" "" "CACNA1C(NM_199460.4):c.2339+20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2584637C>A" "" "benign" "" "0000547691" "0" "30" "12" "2694552" "2694552" "subst" "6.98152E-5" "02327" "CACNA1C_000073" "g.2694552C>T" "" "" "" "CACNA1C(NM_199460.4):c.2350C>T (p.P784S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2585386C>T" "" "likely benign" "" "0000547692" "0" "30" "12" "2694564" "2694564" "subst" "5.33684E-5" "01943" "CACNA1C_000172" "g.2694564C>G" "" "" "" "CACNA1C(NM_199460.3):c.2362C>G (p.Q788E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2585398C>G" "" "likely benign" "" "0000547693" "0" "30" "12" "2694632" "2694632" "subst" "2.74574E-5" "01943" "CACNA1C_000173" "g.2694632G>A" "" "" "" "CACNA1C(NM_199460.3):c.2430G>A (p.T810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2585466G>A" "" "likely benign" "" "0000547694" "0" "10" "12" "2694638" "2694638" "subst" "0.111832" "02330" "CACNA1C_000174" "g.2694638C>T" "" "" "" "CACNA1C(NM_199460.4):c.2436C>T (p.D812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2585472C>T" "" "benign" "" "0000547695" "0" "30" "12" "2694651" "2694651" "subst" "0.00237162" "01804" "CACNA1C_000008" "g.2694651C>T" "" "" "" "CACNA1C(NM_000719.7):c.2449C>T (p.(Pro817Ser)), CACNA1C(NM_199460.3):c.2449C>T (p.P817S), CACNA1C(NM_199460.4):c.2449C>T (p.P817S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2585485C>T" "" "likely benign" "" "0000547697" "0" "30" "12" "2702396" "2702398" "del" "0" "02330" "CACNA1C_000176" "g.2702396_2702398del" "" "" "" "CACNA1C(NM_199460.4):c.2548_2550delGAG (p.E850del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2593230_2593232del" "" "likely benign" "" "0000547699" "0" "90" "12" "2702421" "2702421" "subst" "0" "02327" "CACNA1C_000079" "g.2702421G>A" "" "" "" "CACNA1C(NM_001167623.2):c.2573G>A (p.R858H), CACNA1C(NM_199460.4):c.2573G>A (p.R858H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2593255G>A" "" "pathogenic" "" "0000547700" "0" "50" "12" "2702484" "2702484" "subst" "4.06967E-6" "01943" "CACNA1C_000177" "g.2702484C>T" "" "" "" "CACNA1C(NM_199460.3):c.2636C>T (p.A879V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2593318C>T" "" "VUS" "" "0000547701" "0" "30" "12" "2706397" "2706398" "ins" "0" "02330" "CACNA1C_000178" "g.2706397_2706398insGAGC" "" "" "" "CACNA1C(NM_199460.4):c.2795_2796insGAGC (p.I932Mfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2597231_2597232insGAGC" "" "likely benign" "" "0000547702" "0" "10" "12" "2714835" "2714835" "subst" "0.00120264" "02327" "CACNA1C_000089" "g.2714835C>T" "" "" "" "CACNA1C(NM_199460.4):c.3109-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2605669C>T" "" "benign" "" "0000547703" "0" "50" "12" "2714846" "2714846" "subst" "0" "02330" "CACNA1C_000090" "g.2714846A>G" "" "" "" "CACNA1C(NM_199460.3):c.3110A>G (p.H1037R), CACNA1C(NM_199460.4):c.3110A>G (p.H1037R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2605680A>G" "" "VUS" "" "0000547704" "0" "10" "12" "2714964" "2714964" "subst" "2.03115E-5" "02330" "CACNA1C_000180" "g.2714964G>T" "" "" "" "CACNA1C(NM_199460.4):c.3216+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2605798G>T" "" "benign" "" "0000547705" "0" "30" "12" "2714969" "2714969" "subst" "0.000410406" "02327" "CACNA1C_000060" "g.2714969G>A" "" "" "" "CACNA1C(NM_001167623.2):c.3156+17G>A, CACNA1C(NM_199460.4):c.3216+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2605803G>A" "" "likely benign" "" "0000547706" "0" "30" "12" "2715821" "2715821" "subst" "0" "02326" "CACNA1C_000181" "g.2715821G>A" "" "" "" "CACNA1C(NM_199460.3):c.3261G>A (p.A1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2606655G>A" "" "likely benign" "" "0000547707" "0" "10" "12" "2715841" "2715841" "subst" "0.000258918" "02330" "CACNA1C_000182" "g.2715841T>C" "" "" "" "CACNA1C(NM_199460.4):c.3269+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2606675T>C" "" "benign" "" "0000547708" "0" "10" "12" "2716174" "2716174" "subst" "0.000869127" "01943" "CACNA1C_000062" "g.2716174C>T" "" "" "" "CACNA1C(NM_199460.3):c.3294C>T (p.D1098=), CACNA1C(NM_199460.4):c.3294C>T (p.D1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2607008C>T" "" "benign" "" "0000547709" "0" "30" "12" "2717761" "2717761" "subst" "0" "02326" "CACNA1C_000183" "g.2717761C>T" "" "" "" "CACNA1C(NM_199460.3):c.3501C>T (p.I1167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2608595C>T" "" "likely benign" "" "0000547710" "0" "10" "12" "2719802" "2719802" "subst" "2.03032E-5" "02330" "CACNA1C_000184" "g.2719802C>T" "" "" "" "CACNA1C(NM_199460.4):c.3714C>T (p.S1238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2610636C>T" "" "benign" "" "0000547711" "0" "50" "12" "2719860" "2719860" "subst" "0" "02326" "CACNA1C_000091" "g.2719860A>G" "" "" "" "CACNA1C(NM_199460.3):c.3772A>G (p.M1258V), CACNA1C(NM_199460.4):c.3772A>G (p.M1258V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2610694A>G" "" "VUS" "" "0000547715" "0" "10" "12" "2760928" "2760928" "subst" "6.22887E-5" "02330" "CACNA1C_000186" "g.2760928C>T" "" "" "" "CACNA1C(NM_199460.4):c.4212C>T (p.S1404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2651762C>T" "" "benign" "" "0000547716" "0" "30" "12" "2760941" "2760941" "subst" "0" "02327" "CACNA1C_000187" "g.2760941G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2651775G>A" "" "likely benign" "" "0000547717" "0" "30" "12" "2764342" "2764342" "subst" "2.43803E-5" "02327" "CACNA1C_000188" "g.2764342C>T" "" "" "" "CACNA1C(NM_001167623.2):c.4170C>T (p.T1390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2655176C>T" "" "likely benign" "" "0000547718" "0" "10" "12" "2774063" "2774063" "subst" "4.89025E-5" "02330" "CACNA1C_000189" "g.2774063C>T" "" "" "" "CACNA1C(NM_199460.4):c.4449C>T (p.S1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2664897C>T" "" "benign" "" "0000547719" "0" "10" "12" "2774833" "2774833" "subst" "0.0121616" "02327" "CACNA1C_000106" "g.2774833T>C" "" "" "" "CACNA1C(NM_199460.4):c.4629T>C (p.D1543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2665667T>C" "" "benign" "" "0000547720" "0" "30" "12" "2774863" "2774863" "subst" "6.51609E-5" "02326" "CACNA1C_000190" "g.2774863C>T" "" "" "" "CACNA1C(NM_199460.3):c.4659C>T (p.D1553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2665697C>T" "" "likely benign" "" "0000547721" "0" "10" "12" "2778219" "2778219" "subst" "0" "02330" "CACNA1C_000191" "g.2778219C>A" "" "" "" "CACNA1C(NM_199460.4):c.4870+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2669053C>A" "" "benign" "" "0000547724" "0" "50" "12" "2783737" "2783737" "subst" "0" "02327" "CACNA1C_000192" "g.2783737G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2674571G>A" "" "VUS" "" "0000547725" "0" "30" "12" "2786400" "2786400" "subst" "1.23518E-5" "02326" "CACNA1C_000193" "g.2786400G>A" "" "" "" "CACNA1C(NM_199460.3):c.5100+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2677234G>A" "" "likely benign" "" "0000547726" "0" "10" "12" "2786403" "2786403" "subst" "3.30844E-5" "02330" "CACNA1C_000194" "g.2786403C>T" "" "" "" "CACNA1C(NM_199460.4):c.5100+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2677237C>T" "" "benign" "" "0000547727" "0" "10" "12" "2787006" "2787006" "subst" "0.00114552" "02330" "CACNA1C_000195" "g.2787006C>T" "" "" "" "CACNA1C(NM_199460.4):c.5208C>T (p.S1736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2677840C>T" "" "benign" "" "0000547728" "0" "10" "12" "2787050" "2787050" "subst" "0.000509709" "02330" "CACNA1C_000196" "g.2787050C>T" "" "" "" "CACNA1C(NM_199460.4):c.5235+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2677884C>T" "" "benign" "" "0000547729" "0" "10" "12" "2787051" "2787051" "subst" "0.0011131" "02330" "CACNA1C_000197" "g.2787051G>A" "" "" "" "CACNA1C(NM_199460.4):c.5235+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2677885G>A" "" "benign" "" "0000547730" "0" "10" "12" "2788615" "2788615" "subst" "0.00690726" "02327" "CACNA1C_000115" "g.2788615C>T" "" "" "" "CACNA1C(NM_000719.7):c.5097C>T (p.(Ala1699=)), CACNA1C(NM_199460.4):c.5241C>T (p.A1747=), CACNA1C-AS1(NR_045725.1):n.334-1552G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679449C>T" "" "benign" "" "0000547731" "0" "50" "12" "2788670" "2788670" "subst" "0" "02327" "CACNA1C_000198" "g.2788670T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679504T>C" "" "VUS" "" "0000547732" "0" "50" "12" "2788671" "2788671" "subst" "0" "02327" "CACNA1C_000199" "g.2788671T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679505T>G" "" "VUS" "" "0000547733" "0" "30" "12" "2788679" "2788679" "subst" "0" "02327" "CACNA1C_000200" "g.2788679A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679513A>G" "" "likely benign" "" "0000547734" "0" "50" "12" "2788706" "2788706" "subst" "4.10351E-6" "01943" "CACNA1C_000201" "g.2788706A>G" "" "" "" "CACNA1C(NM_199460.3):c.5332A>G (p.I1778V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679540A>G" "" "VUS" "" "0000547735" "0" "30" "12" "2788717" "2788717" "subst" "0.000237958" "02327" "CACNA1C_000119" "g.2788717G>A" "" "" "" "CACNA1C(NM_199460.3):c.5343G>A (p.A1781=), CACNA1C(NM_199460.4):c.5343G>A (p.A1781=), CACNA1C-AS1(NR_045725.1):n.334-1654C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679551G>A" "" "likely benign" "" "0000547736" "0" "30" "12" "2788732" "2788732" "subst" "0.00129368" "02327" "CACNA1C_000120" "g.2788732C>A" "" "" "" "CACNA1C(NM_199460.4):c.5358C>A (p.G1786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679566C>A" "" "likely benign" "" "0000547737" "0" "10" "12" "2788732" "2788732" "subst" "0.000298857" "02330" "CACNA1C_000202" "g.2788732C>T" "" "" "" "CACNA1C(NM_199460.4):c.5358C>T (p.G1786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679566C>T" "" "benign" "" "0000547738" "0" "10" "12" "2788732" "2788732" "subst" "0.000298857" "02327" "CACNA1C_000202" "g.2788732C>T" "" "" "" "CACNA1C(NM_199460.4):c.5358C>T (p.G1786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679566C>T" "" "benign" "" "0000547739" "0" "30" "12" "2788864" "2788864" "subst" "8.3937E-6" "02327" "CACNA1C_000203" "g.2788864C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679698C>G" "" "likely benign" "" "0000547740" "0" "50" "12" "2788926" "2788926" "subst" "0.000173575" "02330" "CACNA1C_000204" "g.2788926G>C" "" "" "" "CACNA1C(NM_199460.4):c.5552G>C (p.R1851P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679760G>C" "" "VUS" "" "0000547741" "0" "50" "12" "2789561" "2789561" "subst" "0.000180895" "02330" "CACNA1C_000205" "g.2789561C>A" "" "" "" "CACNA1C(NM_001167625.1):c.5444C>A (p.T1815N), CACNA1C(NM_001167625.2):c.5444C>A (p.T1815N, p.(Thr1815Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2680395C>A" "" "VUS" "" "0000547742" "0" "30" "12" "2789712" "2789712" "subst" "0" "02327" "CACNA1C_000206" "g.2789712A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2680546A>G" "" "likely benign" "" "0000547743" "0" "10" "12" "2791800" "2791800" "subst" "0.000110465" "02330" "CACNA1C_000207" "g.2791800T>C" "" "" "" "CACNA1C(NM_199460.4):c.5778T>C (p.H1926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2682634T>C" "" "benign" "" "0000547744" "0" "30" "12" "2794921" "2794921" "subst" "0" "01804" "CACNA1C_000134" "g.2794921G>A" "" "" "" "CACNA1C(NM_000719.6):c.5593G>A (p.(Glu1865Lys)), CACNA1C(NM_199460.3):c.5842G>A (p.E1948K), CACNA1C(NM_199460.4):c.5842G>A (p.E1948K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2685755G>A" "" "likely benign" "" "0000547746" "0" "10" "12" "2794937" "2794937" "subst" "0" "02327" "CACNA1C_000135" "g.2794937C>T" "" "" "" "CACNA1C(NM_199460.4):c.5858C>T (p.T1953M), CACNA1C-AS1(NR_045725.1):n.333+4369G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2685771C>T" "" "benign" "" "0000547747" "0" "10" "12" "2794977" "2794977" "subst" "0.0207788" "02327" "CACNA1C_000137" "g.2794977G>A" "" "" "" "CACNA1C(NM_000719.7):c.5649G>A (p.P1883=), CACNA1C(NM_199460.4):c.5898G>A (p.P1966=), CACNA1C-AS1(NR_045725.1):n.333+4329C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2685811G>A" "" "benign" "" "0000547750" "0" "30" "12" "2794999" "2794999" "subst" "2.03371E-5" "02326" "CACNA1C_000209" "g.2794999G>C" "" "" "" "CACNA1C(NM_199460.3):c.5920G>C (p.A1974P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2685833G>C" "" "likely benign" "" "0000547751" "0" "10" "12" "2795019" "2795019" "subst" "0.00756424" "02327" "CACNA1C_000139" "g.2795019C>T" "" "" "" "CACNA1C(NM_000719.7):c.5680+11C>T, CACNA1C(NM_199460.3):c.5929+11C>T, CACNA1C(NM_199460.4):c.5929+11C>T, CACNA1C-AS1(NR_045725.1):n.333+4287G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2685853C>T" "" "benign" "" "0000547752" "0" "50" "12" "2795382" "2795382" "subst" "5.68533E-5" "01804" "CACNA1C_000014" "g.2795382G>C" "" "" "" "CACNA1C(NM_000719.6):c.5731G>C (p.(Gly1911Arg)), CACNA1C(NM_199460.4):c.5980G>C (p.G1994R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2686216G>C" "" "VUS" "" "0000547753" "0" "50" "12" "2795388" "2795388" "subst" "4.06098E-5" "02330" "CACNA1C_000210" "g.2795388G>A" "" "" "" "CACNA1C(NM_199460.4):c.5986G>A (p.D1996N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2686222G>A" "" "VUS" "" "0000547754" "0" "50" "12" "2795388" "2795388" "subst" "0" "02330" "CACNA1C_000211" "g.2795388G>T" "" "" "" "CACNA1C(NM_199460.4):c.5986G>T (p.D1996Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2686222G>T" "" "VUS" "" "0000547755" "0" "30" "12" "2795412" "2795412" "subst" "0" "02327" "CACNA1C_000212" "g.2795412C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2686246C>T" "" "likely benign" "" "0000547756" "0" "10" "12" "2797688" "2797688" "subst" "0" "02327" "CACNA1C_000213" "g.2797688A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688522A>C" "" "benign" "" "0000547757" "0" "10" "12" "2797693" "2797693" "subst" "0" "02327" "CACNA1C_000214" "g.2797693A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688527A>C" "" "benign" "" "0000547758" "0" "50" "12" "2797722" "2797722" "subst" "4.0834E-6" "02330" "CACNA1C_000215" "g.2797722C>T" "" "" "" "CACNA1C(NM_199460.4):c.6143C>T (p.P2048L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688556C>T" "" "VUS" "" "0000547759" "0" "30" "12" "2797746" "2797746" "subst" "0.00343406" "02330" "CACNA1C_000216" "g.2797746G>A" "" "" "" "CACNA1C(NM_199460.3):c.6167G>A (p.R2056Q), CACNA1C(NM_199460.4):c.6167G>A (p.R2056Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688580G>A" "" "likely benign" "" "0000547760" "0" "30" "12" "2797746" "2797746" "subst" "0.00343406" "01943" "CACNA1C_000216" "g.2797746G>A" "" "" "" "CACNA1C(NM_199460.3):c.6167G>A (p.R2056Q), CACNA1C(NM_199460.4):c.6167G>A (p.R2056Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688580G>A" "" "likely benign" "" "0000547761" "0" "30" "12" "2797746" "2797746" "subst" "0.00343406" "02326" "CACNA1C_000216" "g.2797746G>A" "" "" "" "CACNA1C(NM_199460.3):c.6167G>A (p.R2056Q), CACNA1C(NM_199460.4):c.6167G>A (p.R2056Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688580G>A" "" "likely benign" "" "0000547762" "0" "30" "12" "2797868" "2797868" "subst" "0.000353095" "02326" "CACNA1C_000217" "g.2797868G>A" "" "" "" "CACNA1C(NM_000719.7):c.6040G>A (p.V2014I), CACNA1C(NM_001167623.2):c.6040G>A (p.V2014I), CACNA1C(NM_199460.3):c.6289G>A (p.V2097I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688702G>A" "" "likely benign" "" "0000547763" "0" "30" "12" "2797944" "2797944" "subst" "8.45101E-5" "02326" "CACNA1C_000143" "g.2797944C>G" "" "" "" "CACNA1C(NM_000719.7):c.6116C>G (p.A2039G), CACNA1C(NM_199460.3):c.6365C>G (p.A2122G), CACNA1C(NM_199460.4):c.6365C>G (p.A2122G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688778C>G" "" "likely benign" "" "0000547765" "0" "50" "12" "2800220" "2800220" "subst" "0.000488111" "02330" "CACNA1C_000219" "g.2800220A>G" "" "" "" "CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2691054A>G" "" "VUS" "" "0000547766" "0" "30" "12" "2800220" "2800220" "subst" "0.000488111" "01943" "CACNA1C_000219" "g.2800220A>G" "" "" "" "CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2691054A>G" "" "likely benign" "" "0000547767" "0" "30" "12" "2800220" "2800220" "subst" "0.000488111" "02325" "CACNA1C_000219" "g.2800220A>G" "" "" "" "CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2691054A>G" "" "likely benign" "" "0000547768" "0" "50" "12" "2800250" "2800250" "subst" "0" "02326" "CACNA1C_000220" "g.2800250G>A" "" "" "" "CACNA1C(NM_199460.3):c.6551G>A (p.R2184K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2691084G>A" "" "VUS" "" "0000547769" "0" "30" "12" "2800290" "2800290" "subst" "9.07748E-5" "02327" "CACNA1C_000070" "g.2800290G>A" "" "" "" "CACNA1C(NM_199460.4):c.6591G>A (p.A2197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2691124G>A" "" "likely benign" "" "0000547770" "0" "30" "12" "2800336" "2800336" "subst" "0.000121996" "02326" "CACNA1C_000221" "g.2800336G>A" "" "" "" "CACNA1C(NM_199460.3):c.6637G>A (p.D2213N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2691170G>A" "" "likely benign" "" "0000614034" "0" "10" "12" "2224511" "2224511" "subst" "0.0205921" "02327" "CACNA1C_000146" "g.2224511C>T" "" "" "" "CACNA1C(NM_000719.7):c.171C>T (p.(Asp57=)), CACNA1C(NM_199460.4):c.171C>T (p.D57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115345C>T" "" "benign" "" "0000614035" "0" "50" "12" "2224546" "2224546" "subst" "0" "02327" "CACNA1C_000223" "g.2224546G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115380G>A" "" "VUS" "" "0000614036" "0" "30" "12" "2224606" "2224606" "subst" "0" "02327" "CACNA1C_000224" "g.2224606C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115440C>T" "" "likely benign" "" "0000614043" "0" "10" "12" "2558123" "2558123" "subst" "0.001277" "02327" "CACNA1C_000225" "g.2558123T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2448957T>G" "" "benign" "" "0000614044" "0" "50" "12" "2566788" "2566788" "subst" "0" "02327" "CACNA1C_000226" "g.2566788G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2457622G>A" "" "VUS" "" "0000614045" "0" "30" "12" "2602543" "2602543" "subst" "4.47187E-5" "02327" "CACNA1C_000227" "g.2602543G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2493377G>A" "" "likely benign" "" "0000614046" "0" "10" "12" "2613717" "2613717" "subst" "6.92498E-5" "02330" "CACNA1C_000228" "g.2613717G>A" "" "" "" "CACNA1C(NM_001167623.2):c.1217+12G>A, CACNA1C(NM_199460.4):c.1114-291G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2504551G>A" "" "benign" "" "0000614047" "0" "10" "12" "2622119" "2622119" "subst" "0.000118301" "02330" "CACNA1C_000229" "g.2622119C>T" "" "" "" "CACNA1C(NM_001167623.2):c.1359C>T (p.D453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2512953C>T" "" "benign" "" "0000614048" "0" "10" "12" "2676859" "2676859" "subst" "0.000525904" "02330" "CACNA1C_000230" "g.2676859C>T" "" "" "" "CACNA1C(NM_199460.4):c.1794C>T (p.G598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2567693C>T" "" "benign" "" "0000614050" "0" "70" "12" "2676906" "2676906" "subst" "0" "02327" "CACNA1C_000232" "g.2676906T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2567740T>G" "" "likely pathogenic" "" "0000614051" "0" "30" "12" "2690927" "2690927" "subst" "0.000163667" "02327" "CACNA1C_000056" "g.2690927C>T" "" "" "" "CACNA1C(NM_199460.4):c.2067C>T (p.F689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2581761C>T" "" "likely benign" "" "0000614052" "0" "30" "12" "2693676" "2693676" "subst" "2.43831E-5" "02327" "CACNA1C_000071" "g.2693676A>C" "" "" "" "CACNA1C(NM_199460.3):c.2232A>C (p.L744=), CACNA1C(NM_199460.4):c.2232A>C (p.L744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2584510A>C" "" "likely benign" "" "0000614053" "0" "30" "12" "2693685" "2693685" "subst" "0" "02327" "CACNA1C_000233" "g.2693685G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2584519G>C" "" "likely benign" "" "0000614055" "0" "10" "12" "2694638" "2694638" "subst" "0.111832" "02327" "CACNA1C_000174" "g.2694638C>T" "" "" "" "CACNA1C(NM_199460.4):c.2436C>T (p.D812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2585472C>T" "" "benign" "" "0000614056" "0" "10" "12" "2694651" "2694651" "subst" "0.00237162" "02327" "CACNA1C_000008" "g.2694651C>T" "" "" "" "CACNA1C(NM_000719.7):c.2449C>T (p.(Pro817Ser)), CACNA1C(NM_199460.3):c.2449C>T (p.P817S), CACNA1C(NM_199460.4):c.2449C>T (p.P817S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2585485C>T" "" "benign" "" "0000614058" "0" "70" "12" "2702427" "2702427" "subst" "1.62861E-5" "02327" "CACNA1C_000081" "g.2702427G>A" "" "" "" "CACNA1C(NM_199460.3):c.2579G>A (p.R860Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2593261G>A" "" "likely pathogenic" "" "0000614059" "0" "30" "12" "2702528" "2702528" "subst" "4.08934E-6" "02330" "CACNA1C_000235" "g.2702528G>C" "" "" "" "CACNA1C(NM_199460.4):c.2663+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2593362G>C" "" "likely benign" "" "0000614060" "0" "30" "12" "2711016" "2711016" "subst" "7.71567E-5" "02327" "CACNA1C_000236" "g.2711016G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2601850G>A" "" "likely benign" "" "0000614061" "0" "30" "12" "2716143" "2716143" "subst" "0" "02327" "CACNA1C_000237" "g.2716143C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2606977C>G" "" "likely benign" "" "0000614062" "0" "50" "12" "2716219" "2716219" "subst" "0" "02327" "CACNA1C_000238" "g.2716219C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2607053C>A" "" "VUS" "" "0000614063" "0" "30" "12" "2719790" "2719790" "subst" "0.000540066" "02327" "CACNA1C_000066" "g.2719790C>T" "" "" "" "CACNA1C(NM_199460.3):c.3702C>T (p.Y1234=), CACNA1C(NM_199460.4):c.3702C>T (p.Y1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2610624C>T" "" "likely benign" "" "0000614064" "0" "30" "12" "2719802" "2719802" "subst" "2.03032E-5" "02327" "CACNA1C_000184" "g.2719802C>T" "" "" "" "CACNA1C(NM_199460.4):c.3714C>T (p.S1238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2610636C>T" "" "likely benign" "" "0000614065" "0" "10" "12" "2719826" "2719826" "subst" "0.000105578" "02330" "CACNA1C_000239" "g.2719826C>T" "" "" "" "CACNA1C(NM_199460.4):c.3738C>T (p.F1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2610660C>T" "" "benign" "" "0000614066" "0" "10" "12" "2721131" "2721131" "subst" "0.00211591" "02327" "CACNA1C_000092" "g.2721131C>A" "" "" "" "CACNA1C(NM_199460.3):c.3840C>A (p.G1280=), CACNA1C(NM_199460.4):c.3840C>A (p.G1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2611965C>A" "" "benign" "" "0000614067" "0" "30" "12" "2760761" "2760761" "subst" "6.90877E-5" "02327" "CACNA1C_000097" "g.2760761C>G" "" "" "" "CACNA1C(NM_001129829.2):c.3967C>G (p.P1323A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2651595C>G" "" "likely benign" "" "0000614068" "0" "30" "12" "2760794" "2760794" "subst" "0.000235552" "02327" "CACNA1C_000099" "g.2760794G>A" "" "" "" "CACNA1C(NM_001129829.2):c.4000G>A (p.D1334N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2651628G>A" "" "likely benign" "" "0000614069" "0" "30" "12" "2760928" "2760928" "subst" "6.22887E-5" "02327" "CACNA1C_000186" "g.2760928C>T" "" "" "" "CACNA1C(NM_199460.4):c.4212C>T (p.S1404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2651762C>T" "" "likely benign" "" "0000614070" "0" "10" "12" "2760948" "2760948" "subst" "0.000260997" "02330" "CACNA1C_000240" "g.2760948A>G" "" "" "" "CACNA1C(NM_001167623.2):c.4074+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2651782A>G" "" "benign" "" "0000614071" "0" "50" "12" "2763065" "2763065" "subst" "0" "02327" "CACNA1C_000241" "g.2763065A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2653899A>G" "" "VUS" "" "0000614072" "0" "50" "12" "2783764" "2783764" "subst" "0" "02330" "CACNA1C_000242" "g.2783764G>A" "" "" "" "CACNA1C(NM_199460.4):c.4928G>A (p.R1643Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2674598G>A" "" "VUS" "" "0000614073" "0" "30" "12" "2788668" "2788668" "subst" "0.000815566" "02327" "CACNA1C_000243" "g.2788668C>G" "" "" "" "CACNA1C(NM_001167623.2):c.5150C>G (p.A1717G), CACNA1C(NM_199460.3):c.5294C>G (p.A1765G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679502C>G" "" "likely benign" "" "0000614074" "0" "50" "12" "2788805" "2788819" "dup" "0" "02327" "CACNA1C_000244" "g.2788805_2788819dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679639_2679653dup" "" "VUS" "" "0000614075" "0" "30" "12" "2789679" "2789679" "subst" "0.00061819" "01943" "CACNA1C_000245" "g.2789679G>A" "" "" "" "CACNA1C(NM_001167625.1):c.5562G>A (p.L1854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2680513G>A" "" "likely benign" "" "0000614076" "0" "30" "12" "2791727" "2791727" "subst" "2.05229E-5" "02327" "CACNA1C_000246" "g.2791727G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2682561G>A" "" "likely benign" "" "0000614077" "0" "30" "12" "2791821" "2791821" "subst" "5.75289E-5" "02327" "CACNA1C_000133" "g.2791821G>A" "" "" "" "CACNA1C(NM_001167623.2):c.5550G>A (p.E1850=), CACNA1C(NM_199460.4):c.5799G>A (p.E1933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2682655G>A" "" "likely benign" "" "0000614079" "0" "30" "12" "2794965" "2794965" "subst" "1.21986E-5" "02327" "CACNA1C_000136" "g.2794965C>A" "" "" "" "CACNA1C(NM_199460.4):c.5886C>A (p.I1962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2685799C>A" "" "likely benign" "" "0000614080" "0" "10" "12" "2795023" "2795023" "subst" "0.00395779" "02327" "CACNA1C_000140" "g.2795023C>T" "" "" "" "CACNA1C(NM_000719.7):c.5680+15C>T, CACNA1C(NM_199460.4):c.5929+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2685857C>T" "" "benign" "" "0000614081" "0" "30" "12" "2797745" "2797745" "subst" "1.62912E-5" "02327" "CACNA1C_000249" "g.2797745C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688579C>A" "" "likely benign" "" "0000614082" "0" "30" "12" "2797746" "2797746" "subst" "0.00343406" "02327" "CACNA1C_000216" "g.2797746G>A" "" "" "" "CACNA1C(NM_199460.3):c.6167G>A (p.R2056Q), CACNA1C(NM_199460.4):c.6167G>A (p.R2056Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688580G>A" "" "likely benign" "" "0000614083" "0" "30" "12" "2800216" "2800216" "subst" "0" "02327" "CACNA1C_000250" "g.2800216C>G" "" "" "" "CACNA1C(NM_000719.6):c.6268C>G (p.(Pro2090Ala)), CACNA1C(NM_199460.4):c.6517C>G (p.P2173A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2691050C>G" "" "likely benign" "" "0000614084" "0" "30" "12" "2800220" "2800220" "subst" "0.000488111" "02327" "CACNA1C_000219" "g.2800220A>G" "" "" "" "CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2691054A>G" "" "likely benign" "" "0000614086" "0" "50" "12" "2800336" "2800336" "subst" "0.000121996" "02327" "CACNA1C_000221" "g.2800336G>A" "" "" "" "CACNA1C(NM_199460.3):c.6637G>A (p.D2213N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2691170G>A" "" "VUS" "" "0000622858" "0" "50" "12" "2224422" "2224422" "subst" "2.77775E-5" "02330" "CACNA1C_000222" "g.2224422G>A" "" "" "" "CACNA1C(NM_001167623.2):c.82G>A (p.A28T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115256G>A" "" "VUS" "" "0000622861" "0" "50" "12" "2791759" "2791761" "del" "0" "02330" "CACNA1C_000247" "g.2791759_2791761del" "" "" "" "CACNA1C(NM_001167623.2):c.5488_5490delGAG (p.E1830del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2682593_2682595del" "" "VUS" "" "0000622862" "0" "50" "12" "2791781" "2791781" "subst" "0" "02330" "CACNA1C_000248" "g.2791781A>G" "" "" "" "CACNA1C(NM_001167623.2):c.5510A>G (p.Y1837C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2682615A>G" "" "VUS" "" "0000622863" "0" "50" "12" "2797868" "2797868" "subst" "0.000353095" "02330" "CACNA1C_000217" "g.2797868G>A" "" "" "" "CACNA1C(NM_000719.7):c.6040G>A (p.V2014I), CACNA1C(NM_001167623.2):c.6040G>A (p.V2014I), CACNA1C(NM_199460.3):c.6289G>A (p.V2097I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2688702G>A" "" "VUS" "" "0000648527" "1" "70" "12" "2224509" "2224509" "subst" "1.02728E-5" "03575" "CACNA1C_000251" "g.2224509G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs773528195}" "Germline" "" "rs773528195" "0" "" "" "g.2115343G>A" "" "likely pathogenic" "" "0000648531" "1" "30" "12" "2694651" "2694651" "subst" "0.00237162" "03575" "CACNA1C_000008" "g.2694651C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs112532048}" "Germline" "" "rs112532048" "0" "" "" "g.2585485C>T" "" "likely benign" "" "0000648532" "1" "50" "12" "2797859" "2797859" "subst" "4.16133E-6" "03575" "CACNA1C_000252" "g.2797859G>A" "2/2768 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs193922615}" "Germline" "" "rs193922615" "0" "" "" "g.2688693G>A" "" "VUS" "" "0000648533" "1" "50" "12" "2797868" "2797868" "subst" "0.000353095" "03575" "CACNA1C_000217" "g.2797868G>A" "3/2752 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs199473660}" "Germline" "" "rs199473660" "0" "" "" "g.2688702G>A" "" "VUS" "" "0000648534" "1" "10" "12" "2805632" "2805632" "subst" "0" "03575" "CACNA1C_000253" "g.2805632C>A" "152/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "152 heterozygous; {DB:CLININrs7957163}" "Germline" "" "rs7957163" "0" "" "" "g.2696466C>A" "" "benign" "" "0000657069" "0" "30" "12" "2566839" "2566839" "subst" "0.000260524" "01943" "CACNA1C_000254" "g.2566839C>T" "" "" "" "CACNA1C(NM_199460.3):c.724C>T (p.L242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2457673C>T" "" "likely benign" "" "0000657070" "0" "30" "12" "2602423" "2602423" "subst" "0.000117854" "01943" "CACNA1C_000155" "g.2602423C>T" "" "" "" "CACNA1C(NM_199460.3):c.984C>T (p.N328=), CACNA1C(NM_199460.4):c.984C>T (p.N328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2493257C>T" "" "likely benign" "" "0000657071" "0" "30" "12" "2675636" "2675636" "subst" "0.000138846" "01943" "CACNA1C_000255" "g.2675636C>A" "" "" "" "CACNA1C(NM_199460.3):c.1557C>A (p.A519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2566470C>A" "" "likely benign" "" "0000657072" "0" "10" "12" "2778207" "2778207" "subst" "4.06352E-6" "02330" "CACNA1C_000256" "g.2778207G>A" "" "" "" "CACNA1C(NM_001167623.2):c.4726+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2669041G>A" "" "benign" "" "0000657073" "0" "30" "12" "2788668" "2788668" "subst" "0.000815566" "01943" "CACNA1C_000243" "g.2788668C>G" "" "" "" "CACNA1C(NM_001167623.2):c.5150C>G (p.A1717G), CACNA1C(NM_199460.3):c.5294C>G (p.A1765G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2679502C>G" "" "likely benign" "" "0000657074" "0" "50" "12" "2791122" "2791122" "dup" "0" "02330" "CACNA1C_000257" "g.2791122dup" "" "" "" "CACNA1C(NM_199460.4):c.5595dupG (p.H1866Afs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2681956dup" "" "VUS" "" "0000667495" "0" "90" "12" "2717817" "2717817" "subst" "0" "00006" "CACNA1C_000258" "g.2717817T>C" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.2608651T>C" "" "pathogenic (dominant)" "ACMG" "0000669166" "3" "10" "12" "2805632" "2805632" "subst" "0" "03575" "CACNA1C_000253" "g.2805632C>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs7957163}" "Germline" "" "rs7957163" "0" "" "" "g.2696466C>A" "" "benign" "" "0000679469" "0" "50" "12" "2224471" "2224471" "subst" "0" "02327" "CACNA1C_000259" "g.2224471C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679470" "0" "30" "12" "2224542" "2224542" "subst" "0.000138635" "01943" "CACNA1C_000260" "g.2224542G>A" "" "" "" "CACNA1C(NM_001167623.2):c.202G>A (p.A68T), CACNA1C(NM_199460.3):c.202G>A (p.A68T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679476" "0" "30" "12" "2602378" "2602378" "subst" "4.07664E-6" "02327" "CACNA1C_000261" "g.2602378T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679477" "0" "30" "12" "2602405" "2602405" "subst" "0.000703687" "01943" "CACNA1C_000039" "g.2602405C>T" "" "" "" "CACNA1C(NM_199460.3):c.966C>T (p.H322=), CACNA1C(NM_199460.4):c.966C>T (p.H322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679478" "0" "50" "12" "2692072" "2692072" "subst" "5.46732E-5" "01943" "CACNA1C_000262" "g.2692072T>A" "" "" "" "CACNA1C(NM_199460.3):c.2188T>A (p.C730S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679479" "0" "70" "12" "2695051" "2695051" "subst" "0" "02327" "CACNA1C_000263" "g.2695051C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679480" "0" "50" "12" "2774080" "2774080" "subst" "1.62596E-5" "02327" "CACNA1C_000264" "g.2774080C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679481" "0" "30" "12" "2775936" "2775936" "subst" "0.000226874" "02327" "CACNA1C_000265" "g.2775936C>T" "" "" "" "CACNA1C(NM_001167623.2):c.4611C>T (p.R1537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679482" "0" "30" "12" "2786965" "2786965" "subst" "0.000105614" "01943" "CACNA1C_000266" "g.2786965G>A" "" "" "" "CACNA1C(NM_000719.7):c.5023G>A (p.(Ala1675Thr)), CACNA1C(NM_001167623.2):c.5023G>A (p.A1675T), CACNA1C(NM_199460.3):c.5167G>A (p.A1723T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679483" "0" "30" "12" "2788637" "2788637" "subst" "0.000226332" "01943" "CACNA1C_000116" "g.2788637G>A" "" "" "" "CACNA1C(NM_199460.3):c.5263G>A (p.V1755I), CACNA1C(NM_199460.4):c.5263G>A (p.V1755I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679484" "0" "30" "12" "2788941" "2788941" "subst" "1.68009E-5" "02326" "CACNA1C_000267" "g.2788941C>T" "" "" "" "CACNA1C(NM_000719.7):c.5423C>T (p.(Ala1808Val)), CACNA1C(NM_199460.3):c.5567C>T (p.A1856V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679485" "0" "30" "12" "2789561" "2789561" "subst" "0.000180895" "02327" "CACNA1C_000205" "g.2789561C>A" "" "" "" "CACNA1C(NM_001167625.1):c.5444C>A (p.T1815N), CACNA1C(NM_001167625.2):c.5444C>A (p.T1815N, p.(Thr1815Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679486" "0" "30" "12" "2791722" "2791722" "subst" "0.000513288" "01943" "CACNA1C_000132" "g.2791722C>T" "" "" "" "CACNA1C(NM_199460.3):c.5700C>T (p.H1900=), CACNA1C(NM_199460.4):c.5700C>T (p.H1900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679487" "0" "30" "12" "2797803" "2797803" "subst" "8.95554E-5" "02327" "CACNA1C_000268" "g.2797803G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679488" "0" "50" "12" "2800216" "2800216" "subst" "0" "02330" "CACNA1C_000250" "g.2800216C>G" "" "" "" "CACNA1C(NM_000719.6):c.6268C>G (p.(Pro2090Ala)), CACNA1C(NM_199460.4):c.6517C>G (p.P2173A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679489" "0" "30" "12" "2800291" "2800305" "dup" "0" "01804" "CACNA1C_000269" "g.2800291_2800305dup" "" "" "" "CACNA1C(NM_000719.6):c.6338_6339insCGCGGGCTGTGTGCG (p.(Gly2115_Ala2119dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691319" "0" "50" "12" "2676818" "2676818" "subst" "3.69255E-5" "02330" "CACNA1C_000054" "g.2676818G>A" "" "" "" "CACNA1C(NM_001167623.2):c.1753G>A (p.V585M), CACNA1C(NM_199460.3):c.1753G>A (p.V585M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691320" "0" "50" "12" "2690829" "2690829" "del" "0" "01804" "CACNA1C_000270" "g.2690829del" "" "" "" "CACNA1C(NM_000719.6):c.1969del (p.(Leu657Serfs*47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691323" "0" "10" "12" "2778179" "2778179" "subst" "2.8431E-5" "02330" "CACNA1C_000271" "g.2778179G>A" "" "" "" "CACNA1C(NM_001167623.2):c.4704G>A (p.T1568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723993" "0" "90" "12" "2614110" "2614110" "subst" "0" "01804" "CACNA1C_000160" "g.2614110G>A" "" "" "" "CACNA1C(NM_000719.6):c.1216G>A (p.(Gly406Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723994" "0" "50" "12" "2675602" "2675602" "subst" "0" "02329" "CACNA1C_000051" "g.2675602G>A" "" "" "" "CACNA1C(NM_000719.6):c.1523G>A (p.(Arg508Gln)), CACNA1C(NM_199460.4):c.1523G>A (p.R508Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723995" "0" "50" "12" "2676929" "2676929" "subst" "2.45224E-5" "02330" "CACNA1C_000272" "g.2676929G>A" "" "" "" "CACNA1C(NM_001167623.2):c.1864G>A (p.V622I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723996" "0" "50" "12" "2695071" "2695071" "subst" "0" "02329" "CACNA1C_000175" "g.2695071G>A" "" "" "" "CACNA1C(NM_199460.4):c.2530+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723997" "0" "10" "12" "2716243" "2716243" "subst" "4.06342E-5" "02330" "CACNA1C_000273" "g.2716243T>C" "" "" "" "CACNA1C(NM_001167623.2):c.3303T>C (p.V1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723998" "0" "30" "12" "2788624" "2788624" "subst" "0.000183397" "01943" "CACNA1C_000274" "g.2788624G>A" "" "" "" "CACNA1C(NM_001167623.2):c.5106G>A (p.L1702=), CACNA1C(NM_199460.3):c.5250G>A (p.L1750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723999" "0" "30" "12" "2788929" "2788929" "subst" "0" "01943" "CACNA1C_000275" "g.2788929T>C" "" "" "" "CACNA1C(NM_199460.3):c.5555T>C (p.V1852A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724000" "0" "30" "12" "2789630" "2789630" "subst" "5.99427E-6" "01943" "CACNA1C_000276" "g.2789630C>T" "" "" "" "CACNA1C(NM_001167625.1):c.5513C>T (p.A1838V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724001" "0" "30" "12" "2789664" "2789664" "subst" "0" "01943" "CACNA1C_000277" "g.2789664T>G" "" "" "" "CACNA1C(NM_001167625.1):c.5547T>G (p.P1849=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805674" "0" "10" "12" "2595358" "2595358" "subst" "0.000434843" "02330" "CACNA1C_000278" "g.2595358C>T" "" "" "" "CACNA1C(NM_001167623.2):c.846C>T (p.Y282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805675" "0" "50" "12" "2602442" "2602442" "subst" "0" "02326" "CACNA1C_000279" "g.2602442G>A" "" "" "" "CACNA1C(NM_001167623.2):c.1003G>A (p.G335S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805676" "0" "50" "12" "2622102" "2622102" "subst" "0" "02325" "CACNA1C_000047" "g.2622102G>A" "" "" "" "CACNA1C(NM_000719.7):c.1342G>A (p.D448N), CACNA1C(NM_199460.4):c.1342G>A (p.D448N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805677" "0" "50" "12" "2659132" "2659132" "subst" "0" "02325" "CACNA1C_000280" "g.2659132G>A" "" "" "" "CACNA1C(NM_000719.7):c.1414G>A (p.E472K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805678" "0" "30" "12" "2675758" "2675758" "subst" "0.0018337" "01943" "CACNA1C_000281" "g.2675758G>A" "" "" "" "CACNA1C(NM_199460.3):c.1669+10G>A, CACNA1C(NM_199460.4):c.1669+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805679" "0" "50" "12" "2692016" "2692016" "subst" "0" "02327" "CACNA1C_000282" "g.2692016T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805680" "0" "30" "12" "2693676" "2693676" "subst" "2.43831E-5" "01943" "CACNA1C_000071" "g.2693676A>C" "" "" "" "CACNA1C(NM_199460.3):c.2232A>C (p.L744=), CACNA1C(NM_199460.4):c.2232A>C (p.L744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805681" "0" "50" "12" "2694639" "2694639" "subst" "3.45205E-5" "02325" "CACNA1C_000075" "g.2694639G>A" "" "" "" "CACNA1C(NM_000719.6):c.2437G>A (p.(Gly813Arg)), CACNA1C(NM_000719.7):c.2437G>A (p.G813R), CACNA1C(NM_199460.4):c.2437G>A (p.G813R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805682" "0" "50" "12" "2706415" "2706415" "subst" "2.43686E-5" "02330" "CACNA1C_000283" "g.2706415T>C" "" "" "" "CACNA1C(NM_000719.7):c.2813T>C (p.(Ile938Thr)), CACNA1C(NM_001167623.2):c.2813T>C (p.I938T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805683" "0" "10" "12" "2714910" "2714910" "subst" "0.00142934" "02330" "CACNA1C_000016" "g.2714910G>C" "" "" "" "CACNA1C(NM_001167623.2):c.3114G>C (p.L1038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805684" "0" "30" "12" "2719715" "2719715" "subst" "5.30032E-5" "02326" "CACNA1C_000065" "g.2719715C>T" "" "" "" "CACNA1C(NM_001167623.2):c.3567C>T (p.C1189=), CACNA1C(NM_199460.3):c.3627C>T (p.C1209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805685" "0" "50" "12" "2762999" "2762999" "subst" "0" "02329" "CACNA1C_000284" "g.2762999A>G" "" "" "" "CACNA1C(NM_001167623.2):c.4075-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805686" "0" "30" "12" "2786965" "2786965" "subst" "0.000105614" "02326" "CACNA1C_000266" "g.2786965G>A" "" "" "" "CACNA1C(NM_000719.7):c.5023G>A (p.(Ala1675Thr)), CACNA1C(NM_001167623.2):c.5023G>A (p.A1675T), CACNA1C(NM_199460.3):c.5167G>A (p.A1723T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805687" "0" "30" "12" "2791749" "2791749" "subst" "0.000295385" "02330" "CACNA1C_000285" "g.2791749G>A" "" "" "" "CACNA1C(NM_001167623.2):c.5478G>A (p.A1826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817816" "3" "70" "12" "2622142" "2622142" "subst" "0" "00006" "CACNA1C_000286" "g.2622142C>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.2512976C>A" "" "likely pathogenic (recessive)" "ACMG" "0000853348" "0" "10" "12" "2224728" "2224728" "subst" "0.00173094" "02330" "CACNA1C_000287" "g.2224728G>A" "" "" "" "CACNA1C(NM_001167623.2):c.371+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853353" "0" "30" "12" "2602399" "2602399" "subst" "0.000244151" "02327" "CACNA1C_000288" "g.2602399G>A" "" "" "" "CACNA1C(NM_000719.7):c.960G>A (p.(Thr320=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853354" "0" "30" "12" "2602540" "2602540" "subst" "3.25209E-5" "02327" "CACNA1C_000289" "g.2602540C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853356" "0" "50" "12" "2675634" "2675634" "subst" "0" "02327" "CACNA1C_000167" "g.2675634G>A" "" "" "" "CACNA1C(NM_199460.3):c.1555G>A (p.A519T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853357" "0" "10" "12" "2702359" "2702359" "subst" "4.10007E-6" "02330" "CACNA1C_000291" "g.2702359T>C" "" "" "" "CACNA1C(NM_001167623.2):c.2531-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853358" "0" "90" "12" "2702421" "2702421" "subst" "0" "02326" "CACNA1C_000079" "g.2702421G>A" "" "" "" "CACNA1C(NM_001167623.2):c.2573G>A (p.R858H), CACNA1C(NM_199460.4):c.2573G>A (p.R858H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853359" "0" "30" "12" "2705033" "2705033" "subst" "2.853E-5" "02327" "CACNA1C_000082" "g.2705033C>T" "" "" "" "CACNA1C(NM_199460.4):c.2664-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853360" "0" "30" "12" "2743516" "2743516" "subst" "0" "02327" "CACNA1C_000293" "g.2743516C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853361" "0" "30" "12" "2763143" "2763143" "subst" "0" "02327" "CACNA1C_000295" "g.2763143G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853362" "0" "10" "12" "2775936" "2775936" "subst" "0.000226874" "02330" "CACNA1C_000265" "g.2775936C>T" "" "" "" "CACNA1C(NM_001167623.2):c.4611C>T (p.R1537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853363" "0" "30" "12" "2778179" "2778179" "subst" "0" "02327" "CACNA1C_000296" "g.2778179G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853364" "0" "50" "12" "2783791" "2783791" "subst" "0" "02327" "CACNA1C_000297" "g.2783791T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853365" "0" "30" "12" "2786509" "2786509" "subst" "0" "02327" "CACNA1C_000298" "g.2786509C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853366" "0" "30" "12" "2788615" "2788615" "subst" "0" "02327" "CACNA1C_000300" "g.2788615C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853367" "0" "30" "12" "2789609" "2789609" "subst" "0" "02327" "CACNA1C_000302" "g.2789609A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853368" "0" "30" "12" "2791546" "2791546" "subst" "0" "02327" "CACNA1C_000303" "g.2791546A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853369" "0" "50" "12" "2795382" "2795382" "subst" "5.68533E-5" "02330" "CACNA1C_000014" "g.2795382G>C" "" "" "" "CACNA1C(NM_000719.6):c.5731G>C (p.(Gly1911Arg)), CACNA1C(NM_199460.4):c.5980G>C (p.G1994R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853370" "0" "30" "12" "2797797" "2797797" "subst" "0" "02327" "CACNA1C_000304" "g.2797797T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853371" "0" "30" "12" "2797868" "2797868" "subst" "0.000353095" "02327" "CACNA1C_000217" "g.2797868G>A" "" "" "" "CACNA1C(NM_000719.7):c.6040G>A (p.V2014I), CACNA1C(NM_001167623.2):c.6040G>A (p.V2014I), CACNA1C(NM_199460.3):c.6289G>A (p.V2097I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853372" "0" "30" "12" "2800335" "2800335" "subst" "1.26236E-5" "01943" "CACNA1C_000305" "g.2800335G>A" "" "" "" "CACNA1C(NM_199460.3):c.6636G>A (p.Q2212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862951" "0" "50" "12" "2659199" "2659199" "subst" "0" "02330" "CACNA1C_000164" "g.2659199C>T" "" "" "" "CACNA1C(NM_000719.6):c.1481C>T (p.(Ala494Val)), CACNA1C(NM_001167623.2):c.1481C>T (p.A494V), CACNA1C(NM_199460.4):c.1481C>T (p.A494V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862954" "0" "30" "12" "2721098" "2721098" "subst" "0.000105605" "01943" "CACNA1C_000292" "g.2721098C>T" "" "" "" "CACNA1C(NM_199460.3):c.3807C>T (p.I1269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862955" "0" "10" "12" "2757623" "2757623" "subst" "0" "02330" "CACNA1C_000294" "g.2757623A>G" "" "" "" "CACNA1C(NM_001167623.2):c.3913-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862956" "0" "10" "12" "2788595" "2788596" "dup" "0" "02330" "CACNA1C_000299" "g.2788595_2788596dup" "" "" "" "CACNA1C(NM_001167623.2):c.5092-15_5092-14dupCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862957" "0" "50" "12" "2788739" "2788739" "subst" "0" "02330" "CACNA1C_000301" "g.2788739G>A" "" "" "" "CACNA1C(NM_001167623.2):c.5221G>A (p.E1741K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862958" "0" "50" "12" "2797944" "2797944" "subst" "8.45101E-5" "02325" "CACNA1C_000143" "g.2797944C>G" "" "" "" "CACNA1C(NM_000719.7):c.6116C>G (p.A2039G), CACNA1C(NM_199460.3):c.6365C>G (p.A2122G), CACNA1C(NM_199460.4):c.6365C>G (p.A2122G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000878875" "0" "70" "12" "2763027" "2763027" "subst" "0" "04384" "CACNA1C_000306" "g.2763027C>G" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000890495" "0" "30" "12" "2224542" "2224542" "subst" "0.000138635" "02326" "CACNA1C_000260" "g.2224542G>A" "" "" "" "CACNA1C(NM_001167623.2):c.202G>A (p.A68T), CACNA1C(NM_199460.3):c.202G>A (p.A68T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890496" "0" "30" "12" "2229578" "2229578" "subst" "6.90439E-5" "02327" "CACNA1C_000307" "g.2229578C>T" "" "" "" "CACNA1C(NM_001167623.2):c.459C>T (p.N153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890505" "0" "30" "12" "2595304" "2595304" "subst" "4.10058E-6" "02325" "CACNA1C_000151" "g.2595304C>A" "" "" "" "CACNA1C(NM_000719.7):c.792C>A (p.A264=), CACNA1C(NM_199460.3):c.792C>A (p.A264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890506" "0" "30" "12" "2602441" "2602441" "subst" "0.000227463" "02326" "CACNA1C_000041" "g.2602441C>T" "" "" "" "CACNA1C(NM_001167623.2):c.1002C>T (p.P334=), CACNA1C(NM_199460.4):c.1002C>T (p.P334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890507" "0" "30" "12" "2675728" "2675728" "subst" "1.81068E-5" "02327" "CACNA1C_000308" "g.2675728A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890508" "0" "50" "12" "2691986" "2691986" "subst" "0" "02327" "CACNA1C_000309" "g.2691986A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890509" "0" "50" "12" "2693752" "2693752" "subst" "1.62737E-5" "02325" "CACNA1C_000310" "g.2693752G>A" "" "" "" "CACNA1C(NM_000719.7):c.2308G>A (p.E770K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890510" "0" "50" "12" "2694611" "2694611" "subst" "0" "02325" "CACNA1C_000311" "g.2694611G>T" "" "" "" "CACNA1C(NM_000719.7):c.2409G>T (p.K803N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890511" "0" "50" "12" "2717693" "2717693" "subst" "0" "02325" "CACNA1C_000312" "g.2717693A>G" "" "" "" "CACNA1C(NM_000719.7):c.3373A>G (p.I1125V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890512" "0" "30" "12" "2743546" "2743546" "subst" "0" "01943" "CACNA1C_000313" "g.2743546C>T" "" "" "" "CACNA1C(NM_199460.3):c.4056C>T (p.N1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890513" "0" "30" "12" "2764342" "2764342" "subst" "2.43803E-5" "02330" "CACNA1C_000188" "g.2764342C>T" "" "" "" "CACNA1C(NM_001167623.2):c.4170C>T (p.T1390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890514" "0" "10" "12" "2775961" "2775961" "subst" "0.000489706" "02330" "CACNA1C_000314" "g.2775961G>A" "" "" "" "CACNA1C(NM_001167623.2):c.4623+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890515" "0" "30" "12" "2778210" "2778210" "subst" "0.000191017" "02330" "CACNA1C_000315" "g.2778210G>A" "" "" "" "CACNA1C(NM_000719.7):c.4726+9G>A, CACNA1C(NM_001167623.2):c.4726+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890516" "0" "10" "12" "2788590" "2788590" "subst" "0" "02330" "CACNA1C_000316" "g.2788590C>T" "" "" "" "CACNA1C(NM_001167623.2):c.5092-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890517" "0" "10" "12" "2788861" "2788861" "subst" "0.000104772" "02330" "CACNA1C_000317" "g.2788861C>T" "" "" "" "CACNA1C(NM_001167623.2):c.5343C>T (p.P1781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890519" "0" "30" "12" "2789561" "2789561" "subst" "0.000180895" "02326" "CACNA1C_000205" "g.2789561C>A" "" "" "" "CACNA1C(NM_001167625.1):c.5444C>A (p.T1815N), CACNA1C(NM_001167625.2):c.5444C>A (p.T1815N, p.(Thr1815Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890520" "0" "70" "12" "2795370" "2795370" "subst" "0" "02329" "CACNA1C_000318" "g.2795370C>T" "" "" "" "CACNA1C(NM_001167623.2):c.5719C>T (p.Q1907*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890521" "0" "30" "12" "2797604" "2797604" "subst" "0" "02330" "CACNA1C_000319" "g.2797604T>C" "" "" "" "CACNA1C(NM_001167623.2):c.5785-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909458" "0" "50" "12" "2800220" "2800220" "subst" "0.000488111" "03779" "CACNA1C_000219" "g.2800220A>G" "" "" "" "" "" "Unknown" "" "rs201090446" "0" "" "" "" "" "VUS" "" "0000913816" "0" "10" "12" "2694587" "2694587" "subst" "0" "02330" "CACNA1C_000320" "g.2694587A>C" "" "" "" "CACNA1C(NM_199460.4):c.2385A>C (p.A795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913817" "0" "10" "12" "2721137" "2721137" "subst" "0.209716" "02325" "CACNA1C_000093" "g.2721137C>T" "" "" "" "CACNA1C(NM_000719.7):c.3786C>T (p.F1262=), CACNA1C(NM_199460.4):c.3846C>T (p.F1282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913818" "0" "50" "12" "2721159" "2721159" "subst" "0" "02325" "CACNA1C_000321" "g.2721159C>T" "" "" "" "CACNA1C(NM_000719.7):c.3808C>T (p.L1270F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913819" "0" "50" "12" "2760892" "2760892" "subst" "0" "02330" "CACNA1C_000322" "g.2760892G>C" "" "" "" "CACNA1C(NM_199460.4):c.4176G>C (p.E1392D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913820" "0" "10" "12" "2760898" "2760898" "subst" "0.0478192" "02325" "CACNA1C_000102" "g.2760898C>T" "" "" "" "CACNA1C(NM_000719.7):c.4038C>T (p.(Ile1346=), p.I1346=), CACNA1C(NM_199460.4):c.4182C>T (p.I1394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913821" "0" "30" "12" "2775936" "2775936" "subst" "0.000226874" "02326" "CACNA1C_000265" "g.2775936C>T" "" "" "" "CACNA1C(NM_001167623.2):c.4611C>T (p.R1537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913822" "0" "30" "12" "2788624" "2788624" "subst" "0.000183397" "02326" "CACNA1C_000274" "g.2788624G>A" "" "" "" "CACNA1C(NM_001167623.2):c.5106G>A (p.L1702=), CACNA1C(NM_199460.3):c.5250G>A (p.L1750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913823" "0" "10" "12" "2788699" "2788699" "subst" "3.7038E-5" "02330" "CACNA1C_000323" "g.2788699G>A" "" "" "" "CACNA1C(NM_001167623.2):c.5181G>A (p.P1727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913824" "0" "10" "12" "2794977" "2794977" "subst" "0.0207788" "02325" "CACNA1C_000137" "g.2794977G>A" "" "" "" "CACNA1C(NM_000719.7):c.5649G>A (p.P1883=), CACNA1C(NM_199460.4):c.5898G>A (p.P1966=), CACNA1C-AS1(NR_045725.1):n.333+4329C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913825" "0" "30" "12" "2795019" "2795019" "subst" "0.00756424" "02325" "CACNA1C_000139" "g.2795019C>T" "" "" "" "CACNA1C(NM_000719.7):c.5680+11C>T, CACNA1C(NM_199460.3):c.5929+11C>T, CACNA1C(NM_199460.4):c.5929+11C>T, CACNA1C-AS1(NR_045725.1):n.333+4287G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913826" "0" "10" "12" "2795023" "2795023" "subst" "0.00395779" "02325" "CACNA1C_000140" "g.2795023C>T" "" "" "" "CACNA1C(NM_000719.7):c.5680+15C>T, CACNA1C(NM_199460.4):c.5929+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000921064" "21" "90" "12" "2775949" "2775949" "subst" "0" "03544" "CACNA1C_000324" "g.2775949G>A" "" "" "" "" "inherited from a mother with intellectual disability and facial abnormality" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (maternal)" "ACMG" "0000925607" "0" "30" "12" "2613717" "2613717" "subst" "6.92498E-5" "02326" "CACNA1C_000228" "g.2613717G>A" "" "" "" "CACNA1C(NM_001167623.2):c.1217+12G>A, CACNA1C(NM_199460.4):c.1114-291G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925608" "0" "50" "12" "2675637" "2675637" "subst" "0" "02327" "CACNA1C_000053" "g.2675637G>A" "" "" "" "CACNA1C(NM_199460.4):c.1558G>A (p.A520T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925609" "0" "10" "12" "2760722" "2760722" "subst" "8.19692E-6" "02330" "CACNA1C_000325" "g.2760722G>A" "" "" "" "CACNA1C(NM_199460.4):c.4090-84G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925610" "0" "70" "12" "2774122" "2774122" "subst" "0" "02327" "CACNA1C_000326" "g.2774122A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925611" "0" "50" "12" "2797829" "2797829" "subst" "6.13527E-5" "02330" "CACNA1C_000327" "g.2797829G>A" "" "" "" "CACNA1C(NM_001167623.2):c.6001G>A (p.G2001S), CACNA1C(NM_199460.4):c.6250G>A (p.G2084S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930064" "0" "50" "12" "2558176" "2558176" "subst" "0" "02330" "CACNA1C_000328" "g.2558176C>T" "" "" "" "CACNA1C(NM_199460.4):c.512C>T (p.T171M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930065" "0" "50" "12" "2566863" "2566863" "subst" "0" "02327" "CACNA1C_000329" "g.2566863G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930066" "0" "50" "12" "2595429" "2595429" "subst" "0" "02327" "CACNA1C_000152" "g.2595429G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930071" "0" "50" "12" "2795399" "2795399" "subst" "0" "02325" "CACNA1C_000330" "g.2795399G>C" "" "" "" "CACNA1C(NM_000719.7):c.5748G>C (p.Q1916H), CACNA1C(NM_199460.4):c.5997G>C (p.Q1999H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949929" "0" "30" "12" "2717661" "2717661" "subst" "8.66203E-5" "02330" "CACNA1C_000331" "g.2717661C>A" "" "" "" "CACNA1C(NM_001167623.2):c.3357-16C>A, CACNA1C(NM_199460.4):c.3417-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949930" "0" "50" "12" "2795399" "2795399" "subst" "0" "02330" "CACNA1C_000330" "g.2795399G>C" "" "" "" "CACNA1C(NM_000719.7):c.5748G>C (p.Q1916H), CACNA1C(NM_199460.4):c.5997G>C (p.Q1999H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949931" "0" "10" "12" "2797598" "2797598" "subst" "3.28869E-5" "02330" "CACNA1C_000332" "g.2797598C>A" "" "" "" "CACNA1C(NM_001167623.2):c.5785-15C>A, CACNA1C(NM_199460.4):c.6034-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949932" "0" "50" "12" "2797846" "2797846" "subst" "4.11679E-6" "02330" "CACNA1C_000333" "g.2797846C>A" "" "" "" "CACNA1C(NM_000719.6):c.6018C>A (p.(Ser2006Arg)), CACNA1C(NM_199460.4):c.6267C>A (p.S2089R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966852" "0" "50" "12" "2224449" "2224449" "subst" "0.00352447" "02325" "CACNA1C_000020" "g.2224449G>A" "" "" "" "CACNA1C(NM_000719.7):c.109G>A (p.(Gly37Arg), p.G37R), CACNA1C(NM_199460.3):c.109G>A (p.G37R), CACNA1C(NM_199460.4):c.109G>A (p.G37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966853" "0" "10" "12" "2602513" "2602513" "subst" "0.000227422" "02330" "CACNA1C_000334" "g.2602513G>A" "" "" "" "CACNA1C(NM_199460.4):c.1074G>A (p.Q358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966854" "0" "30" "12" "2656631" "2656631" "subst" "0" "02327" "CACNA1C_000335" "g.2656631G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966856" "0" "50" "12" "2788908" "2788908" "subst" "0" "02326" "CACNA1C_000336" "g.2788908C>A" "" "" "" "CACNA1C(NM_001167623.2):c.5390C>A (p.P1797H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980191" "0" "50" "12" "2224458" "2224458" "subst" "0" "01804" "CACNA1C_000337" "g.2224458C>T" "" "" "" "CACNA1C(NM_000719.7):c.118C>T (p.(Pro40Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980193" "0" "30" "12" "2298719" "2298719" "subst" "0" "01804" "CACNA1C_000338" "g.2298719C>T" "" "" "" "CACNA1C(NM_000719.7):c.477+69123C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980197" "0" "30" "12" "2423316" "2423316" "subst" "0" "01804" "CACNA1C_000339" "g.2423316C>G" "" "" "" "CACNA1C(NM_000719.7):c.478-134826C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980198" "0" "30" "12" "2531089" "2531090" "del" "0" "01804" "CACNA1C_000340" "g.2531089_2531090del" "" "" "" "CACNA1C(NM_000719.7):c.478-27053_478-27052del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980202" "0" "30" "12" "2602399" "2602399" "subst" "0.000244151" "01804" "CACNA1C_000288" "g.2602399G>A" "" "" "" "CACNA1C(NM_000719.7):c.960G>A (p.(Thr320=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980203" "0" "30" "12" "2706415" "2706415" "subst" "2.43686E-5" "01804" "CACNA1C_000283" "g.2706415T>C" "" "" "" "CACNA1C(NM_000719.7):c.2813T>C (p.(Ile938Thr)), CACNA1C(NM_001167623.2):c.2813T>C (p.I938T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980204" "0" "50" "12" "2717696" "2717696" "subst" "0" "02330" "CACNA1C_000341" "g.2717696G>A" "" "" "" "CACNA1C(NM_199460.4):c.3436G>A (p.D1146N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980205" "0" "30" "12" "2741883" "2741883" "subst" "0" "01804" "CACNA1C_000342" "g.2741883C>T" "" "" "" "CACNA1C(NM_000719.7):c.3829-1580C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980206" "0" "30" "12" "2775957" "2775957" "subst" "0" "01804" "CACNA1C_000343" "g.2775957T>C" "" "" "" "CACNA1C(NM_000719.7):c.4623+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980207" "0" "30" "12" "2778210" "2778210" "subst" "0.000191017" "01804" "CACNA1C_000315" "g.2778210G>A" "" "" "" "CACNA1C(NM_000719.7):c.4726+9G>A, CACNA1C(NM_001167623.2):c.4726+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980208" "0" "50" "12" "2779854" "2779854" "subst" "0" "01804" "CACNA1C_000344" "g.2779854G>A" "" "" "" "CACNA1C(NM_000719.7):c.4726+1653G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980210" "0" "30" "12" "2786965" "2786965" "subst" "0.000105614" "01804" "CACNA1C_000266" "g.2786965G>A" "" "" "" "CACNA1C(NM_000719.7):c.5023G>A (p.(Ala1675Thr)), CACNA1C(NM_001167623.2):c.5023G>A (p.A1675T), CACNA1C(NM_199460.3):c.5167G>A (p.A1723T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980211" "0" "30" "12" "2788615" "2788615" "subst" "0.00690726" "01804" "CACNA1C_000115" "g.2788615C>T" "" "" "" "CACNA1C(NM_000719.7):c.5097C>T (p.(Ala1699=)), CACNA1C(NM_199460.4):c.5241C>T (p.A1747=), CACNA1C-AS1(NR_045725.1):n.334-1552G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980212" "0" "30" "12" "2788637" "2788637" "subst" "0.000226332" "02327" "CACNA1C_000116" "g.2788637G>A" "" "" "" "CACNA1C(NM_199460.3):c.5263G>A (p.V1755I), CACNA1C(NM_199460.4):c.5263G>A (p.V1755I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980213" "0" "50" "12" "2788658" "2788658" "subst" "8.85344E-5" "01804" "CACNA1C_000345" "g.2788658G>A" "" "" "" "CACNA1C(NM_000719.7):c.5140G>A (p.(Gly1714Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980214" "0" "50" "12" "2788941" "2788941" "subst" "1.68009E-5" "01804" "CACNA1C_000267" "g.2788941C>T" "" "" "" "CACNA1C(NM_000719.7):c.5423C>T (p.(Ala1808Val)), CACNA1C(NM_199460.3):c.5567C>T (p.A1856V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980215" "0" "30" "12" "2795749" "2795749" "subst" "0" "01804" "CACNA1C_000346" "g.2795749G>A" "" "" "" "CACNA1C(NM_000719.7):c.5784+314G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980216" "0" "50" "12" "2797944" "2797944" "subst" "8.45101E-5" "02327" "CACNA1C_000143" "g.2797944C>G" "" "" "" "CACNA1C(NM_000719.7):c.6116C>G (p.A2039G), CACNA1C(NM_199460.3):c.6365C>G (p.A2122G), CACNA1C(NM_199460.4):c.6365C>G (p.A2122G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989645" "0" "50" "12" "2702486" "2702486" "subst" "0" "02515" "CACNA1C_000348" "g.2702486T>C" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "" "0" "" "" "g.2593320T>C" "" "VUS" "" "0000989658" "0" "70" "12" "2675631" "2675631" "subst" "0" "02515" "CACNA1C_000166" "g.2675631C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs786205748" "0" "" "" "g.2566465C>T" "190642" "likely pathogenic" "" "0000989676" "0" "50" "12" "2774153" "2774153" "subst" "0" "02515" "CACNA1C_000349" "g.2774153C>G" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "" "0" "" "" "g.2664987C>G" "" "VUS" "" "0000989677" "0" "50" "12" "2788637" "2788637" "subst" "0.000226332" "02515" "CACNA1C_000116" "g.2788637G>A" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs147896322" "0" "" "" "g.2679471G>A" "190621" "VUS" "" "0000989678" "0" "70" "12" "2702426" "2702426" "subst" "0" "02515" "CACNA1C_000347" "g.2702426C>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs758786846" "0" "" "" "g.2593260C>G" "190702" "likely pathogenic" "" "0000999907" "0" "70" "12" "2224537" "2224537" "del" "0" "01804" "CACNA1C_000350" "g.2224537del" "" "" "" "CACNA1C(NM_000719.6):c.197delG (p.(Gly66fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999916" "0" "50" "12" "2566788" "2566788" "subst" "0" "02330" "CACNA1C_000351" "g.2566788G>C" "" "" "" "CACNA1C(NM_199460.4):c.673G>C (p.G225R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999917" "0" "50" "12" "2602430" "2602430" "subst" "0" "01804" "CACNA1C_000352" "g.2602430G>A" "" "" "" "CACNA1C(NM_000719.6):c.991G>A (p.(Val331Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999918" "0" "30" "12" "2622033" "2622033" "subst" "0" "01804" "CACNA1C_000353" "g.2622033C>T" "" "" "" "CACNA1C(NM_000719.6):c.1273C>T (p.(Arg425Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999922" "0" "50" "12" "2659199" "2659199" "subst" "0" "01804" "CACNA1C_000164" "g.2659199C>T" "" "" "" "CACNA1C(NM_000719.6):c.1481C>T (p.(Ala494Val)), CACNA1C(NM_001167623.2):c.1481C>T (p.A494V), CACNA1C(NM_199460.4):c.1481C>T (p.A494V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999924" "0" "30" "12" "2675602" "2675602" "subst" "0" "01804" "CACNA1C_000051" "g.2675602G>A" "" "" "" "CACNA1C(NM_000719.6):c.1523G>A (p.(Arg508Gln)), CACNA1C(NM_199460.4):c.1523G>A (p.R508Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999925" "0" "50" "12" "2702468" "2702468" "subst" "0" "01804" "CACNA1C_000354" "g.2702468A>G" "" "" "" "CACNA1C(NM_000719.6):c.2620A>G (p.(Met874Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999926" "0" "50" "12" "2706439" "2706439" "subst" "2.43685E-5" "01804" "CACNA1C_000355" "g.2706439T>C" "" "" "" "CACNA1C(NM_000719.6):c.2837T>C (p.(Ile946Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999927" "0" "50" "12" "2717688" "2717688" "subst" "2.92921E-5" "01804" "CACNA1C_000356" "g.2717688G>A" "" "" "" "CACNA1C(NM_000719.6):c.3368G>A (p.(Arg1123His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999928" "0" "50" "12" "2717796" "2717796" "subst" "0" "01804" "CACNA1C_000357" "g.2717796A>G" "" "" "" "CACNA1C(NM_000719.6):c.3476A>G (p.(Asn1159Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999929" "0" "50" "12" "2719722" "2719722" "subst" "0" "01804" "CACNA1C_000358" "g.2719722T>A" "" "" "" "CACNA1C(NM_000719.6):c.3574T>A (p.(Tyr1192Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999930" "0" "50" "12" "2719827" "2719827" "subst" "3.24855E-5" "01804" "CACNA1C_000359" "g.2719827G>A" "" "" "" "CACNA1C(NM_000719.6):c.3679G>A (p.(Val1227Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999931" "0" "50" "12" "2721052" "2721052" "subst" "0" "02330" "CACNA1C_000360" "g.2721052C>G" "" "" "" "CACNA1C(NM_199460.4):c.3778-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999932" "0" "10" "12" "2757690" "2757690" "subst" "4.4678E-5" "02330" "CACNA1C_000361" "g.2757690C>T" "" "" "" "CACNA1C(NM_199460.4):c.4089+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000999933" "0" "50" "12" "2786915" "2786915" "subst" "0" "01804" "CACNA1C_000362" "g.2786915T>G" "" "" "" "CACNA1C(NM_000719.6):c.4973T>G (p.(Leu1658Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999934" "0" "50" "12" "2786923" "2786923" "subst" "4.06997E-6" "01804" "CACNA1C_000363" "g.2786923A>G" "" "" "" "CACNA1C(NM_000719.6):c.4981A>G (p.(Ile1661Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999935" "0" "50" "12" "2788680" "2788680" "subst" "4.95757E-5" "01804" "CACNA1C_000364" "g.2788680C>G" "" "" "" "CACNA1C(NM_000719.6):c.5162C>G (p.(Thr1721Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999936" "0" "50" "12" "2794928" "2794928" "subst" "8.1322E-6" "01804" "CACNA1C_000365" "g.2794928G>A" "" "" "" "CACNA1C(NM_000719.6):c.5600G>A (p.(Arg1867Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999937" "0" "30" "12" "2797846" "2797846" "subst" "4.11679E-6" "01804" "CACNA1C_000333" "g.2797846C>A" "" "" "" "CACNA1C(NM_000719.6):c.6018C>A (p.(Ser2006Arg)), CACNA1C(NM_199460.4):c.6267C>A (p.S2089R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999938" "0" "50" "12" "2797853" "2797853" "subst" "0" "01804" "CACNA1C_000366" "g.2797853C>T" "" "" "" "CACNA1C(NM_000719.6):c.6025C>T (p.(Arg2009Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999939" "0" "30" "12" "2800141" "2800141" "subst" "0" "01804" "CACNA1C_000367" "g.2800141G>A" "" "" "" "CACNA1C(NM_000719.6):c.6193G>A (p.(Asp2065Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999940" "0" "50" "12" "2800187" "2800187" "subst" "0" "02330" "CACNA1C_000368" "g.2800187A>G" "" "" "" "CACNA1C(NM_199460.4):c.6488A>G (p.N2163S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999941" "0" "30" "12" "2800216" "2800216" "subst" "0" "01804" "CACNA1C_000250" "g.2800216C>G" "" "" "" "CACNA1C(NM_000719.6):c.6268C>G (p.(Pro2090Ala)), CACNA1C(NM_199460.4):c.6517C>G (p.P2173A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999942" "0" "30" "12" "2800220" "2800220" "subst" "0.000488111" "01804" "CACNA1C_000219" "g.2800220A>G" "" "" "" "CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999943" "0" "30" "12" "2800264" "2800264" "subst" "0" "01804" "CACNA1C_000369" "g.2800264G>A" "" "" "" "CACNA1C(NM_000719.6):c.6316G>A (p.(Asp2106Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014955" "0" "50" "12" "2714266" "2714266" "subst" "1.21859E-5" "02326" "CACNA1C_000370" "g.2714266G>A" "" "" "" "CACNA1C(NM_001167623.2):c.2980G>A (p.V994M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014956" "0" "30" "12" "2791821" "2791821" "subst" "5.75289E-5" "02326" "CACNA1C_000133" "g.2791821G>A" "" "" "" "CACNA1C(NM_001167623.2):c.5550G>A (p.E1850=), CACNA1C(NM_199460.4):c.5799G>A (p.E1933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014957" "0" "50" "12" "2797829" "2797829" "subst" "6.13527E-5" "02326" "CACNA1C_000327" "g.2797829G>A" "" "" "" "CACNA1C(NM_001167623.2):c.6001G>A (p.G2001S), CACNA1C(NM_199460.4):c.6250G>A (p.G2084S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016264" "0" "50" "12" "2788746" "2788746" "subst" "0" "03779" "CACNA1C_000371" "g.2788746C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001016705" "0" "70" "12" "2774033" "2774033" "subst" "0" "03779" "CACNA1C_000372" "g.2774033C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1555993955" "0" "" "" "" "" "likely pathogenic" "" "0001019607" "0" "50" "12" "2760863" "2760863" "subst" "0" "03779" "CACNA1C_000373" "g.2760863C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001020095" "0" "50" "12" "2775902" "2775902" "subst" "0" "03779" "CACNA1C_000374" "g.2775902C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs2096135811" "0" "" "" "" "" "VUS" "" "0001022124" "0" "50" "12" "2558177" "2558177" "subst" "2.47353E-5" "04796" "CACNA1C_000148" "g.2558177G>A" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.2449011G>A" "" "VUS" "" "0001026149" "0" "30" "12" "2224475" "2224475" "subst" "3.38083E-5" "02326" "CACNA1C_000375" "g.2224475C>G" "" "" "" "CACNA1C(NM_001167623.2):c.135C>G (p.T45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026150" "0" "50" "12" "2229578" "2229578" "subst" "6.90439E-5" "02326" "CACNA1C_000307" "g.2229578C>T" "" "" "" "CACNA1C(NM_001167623.2):c.459C>T (p.N153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026152" "0" "90" "12" "2675631" "2675631" "subst" "0" "02330" "CACNA1C_000166" "g.2675631C>T" "" "" "" "CACNA1C(NM_199460.4):c.1552C>T (p.R518C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026153" "0" "30" "12" "2714969" "2714969" "subst" "0.000410406" "02326" "CACNA1C_000060" "g.2714969G>A" "" "" "" "CACNA1C(NM_001167623.2):c.3156+17G>A, CACNA1C(NM_199460.4):c.3216+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026154" "0" "50" "12" "2716271" "2716271" "subst" "8.15401E-6" "02325" "CACNA1C_000063" "g.2716271G>A" "" "" "" "CACNA1C(NM_000719.6):c.3331G>A (p.(Val1111Ile)), CACNA1C(NM_000719.7):c.3331G>A (p.V1111I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026155" "0" "50" "12" "2783764" "2783764" "subst" "0" "02327" "CACNA1C_000242" "g.2783764G>A" "" "" "" "CACNA1C(NM_199460.4):c.4928G>A (p.R1643Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026156" "0" "30" "12" "2786404" "2786404" "subst" "0.000901206" "02326" "CACNA1C_000113" "g.2786404G>A" "" "" "" "CACNA1C(NM_001167623.2):c.4956+17G>A, CACNA1C(NM_199460.4):c.5100+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026157" "0" "30" "12" "2788668" "2788668" "subst" "0.000815566" "02326" "CACNA1C_000243" "g.2788668C>G" "" "" "" "CACNA1C(NM_001167623.2):c.5150C>G (p.A1717G), CACNA1C(NM_199460.3):c.5294C>G (p.A1765G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026158" "0" "30" "12" "2789571" "2789571" "subst" "5.56208E-5" "02330" "CACNA1C_000376" "g.2789571C>T" "" "" "" "CACNA1C(NM_001167625.2):c.5454C>T (p.P1818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026159" "0" "30" "12" "2797598" "2797598" "subst" "3.28869E-5" "02326" "CACNA1C_000332" "g.2797598C>A" "" "" "" "CACNA1C(NM_001167623.2):c.5785-15C>A, CACNA1C(NM_199460.4):c.6034-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026160" "0" "50" "12" "2797924" "2797924" "subst" "0" "02326" "CACNA1C_000377" "g.2797924T>C" "" "" "" "CACNA1C(NM_001167623.2):c.6096T>C (p.S2032=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026161" "0" "30" "12" "2800220" "2800220" "subst" "0.000488111" "02326" "CACNA1C_000219" "g.2800220A>G" "" "" "" "CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039121" "0" "30" "12" "2102323" "2102323" "subst" "0" "01804" "CACNA1C_000378" "g.2102323C>T" "" "" "" "DCP1B(NM_001319292.2):c.426G>A (p.(Met142Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039137" "0" "50" "12" "2224416" "2224416" "subst" "0" "01804" "CACNA1C_000379" "g.2224416G>A" "" "" "" "CACNA1C(NM_000719.7):c.76G>A (p.(Ala26Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039138" "0" "50" "12" "2224480" "2224480" "subst" "0" "01804" "CACNA1C_000380" "g.2224480G>A" "" "" "" "CACNA1C(NM_000719.7):c.140G>A (p.(Gly47Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039139" "0" "30" "12" "2224511" "2224511" "subst" "0.0205921" "01804" "CACNA1C_000146" "g.2224511C>T" "" "" "" "CACNA1C(NM_000719.7):c.171C>T (p.(Asp57=)), CACNA1C(NM_199460.4):c.171C>T (p.D57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039142" "0" "30" "12" "2270570" "2270570" "subst" "0" "01804" "CACNA1C_000381" "g.2270570T>A" "" "" "" "CACNA1C(NM_000719.7):c.477+40974T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039143" "0" "30" "12" "2272791" "2272791" "subst" "0" "01804" "CACNA1C_000382" "g.2272791G>A" "" "" "" "CACNA1C(NM_000719.7):c.477+43195G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039154" "0" "50" "12" "2659124" "2659124" "subst" "8.7036E-6" "02326" "CACNA1C_000383" "g.2659124G>A" "" "" "" "CACNA1C(NM_001167623.2):c.1406G>A (p.S469N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039155" "0" "30" "12" "2674399" "2674399" "subst" "0" "01804" "CACNA1C_000384" "g.2674399C>T" "" "" "" "CACNA1C(NM_000719.7):c.1509-1189C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039156" "0" "10" "12" "2675758" "2675758" "subst" "0.0018337" "02330" "CACNA1C_000281" "g.2675758G>A" "" "" "" "CACNA1C(NM_199460.3):c.1669+10G>A, CACNA1C(NM_199460.4):c.1669+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001039157" "0" "30" "12" "2676979" "2676979" "subst" "8.91353E-6" "02326" "CACNA1C_000385" "g.2676979C>G" "" "" "" "CACNA1C(NM_001167623.2):c.1895+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039158" "0" "30" "12" "2681523" "2681523" "dup" "0" "01804" "CACNA1C_000386" "g.2681523dup" "" "" "" "CACNA1C(NM_000719.7):c.1895+4563dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039159" "0" "30" "12" "2681991" "2681991" "subst" "0" "01804" "CACNA1C_000387" "g.2681991C>A" "" "" "" "CACNA1C(NM_000719.7):c.1895+5031C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039160" "0" "30" "12" "2682123" "2682123" "subst" "0" "01804" "CACNA1C_000388" "g.2682123T>C" "" "" "" "CACNA1C(NM_000719.7):c.1895+5163T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039161" "0" "30" "12" "2682168" "2682168" "subst" "0" "01804" "CACNA1C_000389" "g.2682168T>C" "" "" "" "CACNA1C(NM_000719.7):c.1895+5208T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039162" "0" "30" "12" "2682178" "2682178" "del" "0" "01804" "CACNA1C_000390" "g.2682178del" "" "" "" "CACNA1C(NM_000719.7):c.1895+5218del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039163" "0" "50" "12" "2690806" "2690806" "subst" "0" "02325" "CACNA1C_000391" "g.2690806G>A" "" "" "" "CACNA1C(NM_000719.7):c.1946G>A (p.R649H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039164" "0" "50" "12" "2692112" "2692112" "subst" "0" "01804" "CACNA1C_000392" "g.2692112T>A" "" "" "" "CACNA1C(NM_000719.7):c.2224+4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039165" "0" "30" "12" "2716198" "2716198" "subst" "2.8428E-5" "01804" "CACNA1C_000393" "g.2716198C>T" "" "" "" "CACNA1C(NM_000719.7):c.3258C>T (p.(Ile1086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039166" "0" "10" "12" "2757691" "2757691" "subst" "2.03087E-5" "02330" "CACNA1C_000394" "g.2757691G>A" "" "" "" "CACNA1C(NM_199460.4):c.4089+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001039167" "0" "50" "12" "2760743" "2760743" "subst" "0" "01804" "CACNA1C_000095" "g.2760743C>T" "" "" "" "CACNA1C(NM_001129829.2):c.3949C>T (p.P1317S, p.(Pro1317Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039168" "0" "30" "12" "2760898" "2760898" "subst" "0.0478192" "01804" "CACNA1C_000102" "g.2760898C>T" "" "" "" "CACNA1C(NM_000719.7):c.4038C>T (p.(Ile1346=), p.I1346=), CACNA1C(NM_199460.4):c.4182C>T (p.I1394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039170" "0" "50" "12" "2775856" "2775856" "subst" "0" "01804" "CACNA1C_000395" "g.2775856C>T" "" "" "" "CACNA1C(NM_000719.7):c.4531C>T (p.(Arg1511Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039175" "0" "50" "12" "2783740" "2783740" "subst" "0" "01804" "CACNA1C_000396" "g.2783740C>T" "" "" "" "CACNA1C(NM_000719.7):c.4760C>T (p.(Ala1587Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039178" "0" "10" "12" "2788810" "2788810" "subst" "0.0447748" "01804" "CACNA1C_000123" "g.2788810C>T" "" "" "" "CACNA1C(NM_000719.7):c.5292C>T (p.(Asn1764=)), CACNA1C(NM_199460.4):c.5436C>T (p.N1812=), CACNA1C-AS1(NR_045725.1):n.334-1747G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001039179" "0" "30" "12" "2789561" "2789561" "subst" "0.000180895" "01804" "CACNA1C_000205" "g.2789561C>A" "" "" "" "CACNA1C(NM_001167625.1):c.5444C>A (p.T1815N), CACNA1C(NM_001167625.2):c.5444C>A (p.T1815N, p.(Thr1815Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039180" "0" "30" "12" "2792018" "2792018" "subst" "0" "01804" "CACNA1C_000397" "g.2792018C>T" "" "" "" "CACNA1C(NM_000719.7):c.5573+174C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039181" "0" "50" "12" "2797655" "2797655" "subst" "4.10425E-6" "01804" "CACNA1C_000398" "g.2797655C>T" "" "" "" "CACNA1C(NM_000719.7):c.5827C>T (p.(His1943Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046372" "0" "30" "12" "2717661" "2717661" "subst" "8.66203E-5" "02326" "CACNA1C_000331" "g.2717661C>A" "" "" "" "CACNA1C(NM_001167623.2):c.3357-16C>A, CACNA1C(NM_199460.4):c.3417-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046373" "0" "30" "12" "2791749" "2791749" "subst" "0.000295385" "02326" "CACNA1C_000285" "g.2791749G>A" "" "" "" "CACNA1C(NM_001167623.2):c.5478G>A (p.A1826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046374" "0" "50" "12" "2797868" "2797868" "subst" "0.000353095" "02325" "CACNA1C_000217" "g.2797868G>A" "" "" "" "CACNA1C(NM_000719.7):c.6040G>A (p.V2014I), CACNA1C(NM_001167623.2):c.6040G>A (p.V2014I), CACNA1C(NM_199460.3):c.6289G>A (p.V2097I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046979" "0" "50" "12" "2719716" "2719716" "subst" "1.22222E-5" "03779" "CACNA1C_000399" "g.2719716G>T" "" "" "" "" "" "Unknown" "" "rs1048241141" "0" "" "" "" "" "VUS" "" "0001047012" "0" "50" "12" "2764355" "2764355" "subst" "0" "03779" "CACNA1C_000400" "g.2764355C>T" "" "" "" "" "" "Unknown" "" "rs2095348398" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CACNA1C ## Count = 1039 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000005087" "00024102" "30" "1896" "-54" "1896" "-54" "c.1896-54G>A" "r.(?)" "p.(=)" "13i" "0000005087" "00001160" "30" "1896" "-54" "1896" "-54" "c.1896-54G>A" "r.(?)" "p.(=)" "13i" "0000005088" "00024102" "30" "4377" "-136" "4377" "-136" "c.4377-136G>A" "r.(?)" "p.(=)" "36i" "0000005088" "00001160" "30" "4233" "-136" "4233" "-136" "c.4233-136G>A" "r.(?)" "p.(=)" "" "0000005089" "00024102" "30" "4871" "-231" "4871" "-231" "c.4871-231T>C" "r.(?)" "p.(=)" "40i" "0000005089" "00001160" "30" "4727" "-231" "4727" "-231" "c.4727-231T>C" "r.(?)" "p.(=)" "" "0000013031" "00024102" "30" "49" "11028" "49" "11028" "c.49+11028A>G" "r.(?)" "p.(=)" "1i" "0000013031" "00001160" "30" "49" "11028" "49" "11028" "c.49+11028A>G" "r.(?)" "p.(=)" "1i" "0000013032" "00024102" "30" "1896" "-54" "1896" "-54" "c.1896-54G>A" "r.(?)" "p.(=)" "13i" "0000013032" "00001160" "30" "1896" "-54" "1896" "-54" "c.1896-54G>A" "r.(?)" "p.(=)" "13i" "0000013033" "00024102" "30" "4377" "-136" "4377" "-136" "c.4377-136G>A" "r.(?)" "p.(=)" "36i" "0000013033" "00001160" "30" "4233" "-136" "4233" "-136" "c.4233-136G>A" "r.(?)" "p.(=)" "" "0000013034" "00024102" "30" "4543" "-79" "4543" "-79" "c.4543-79C>A" "r.(=)" "p.(=)" "37i" "0000013034" "00001160" "30" "4399" "-79" "4399" "-79" "c.4399-79C>A" "r.(?)" "p.(=)" "" "0000052379" "00024102" "10" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "17" "0000052379" "00001160" "10" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "17" "0000089011" "00024102" "50" "5980" "0" "5980" "0" "c.5980G>C" "r.(?)" "p.(Gly1994Arg)" "48" "0000089011" "00001160" "50" "5731" "0" "5731" "0" "c.5731G>C" "r.(?)" "p.(Gly1911Arg)" "45" "0000096491" "00024102" "50" "4147" "0" "4147" "0" "c.4147C>A" "r.(?)" "p.(Arg1383Ser)" "" "0000235430" "00001160" "30" "3114" "0" "3114" "0" "c.3114G>C" "r.(=)" "p.(=)" "24" "0000235431" "00001160" "50" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Gly2110Asp)" "47" "0000235432" "00001160" "30" "4074" "33" "4074" "33" "c.4074+33del" "r.(=)" "p.(=)" "32i" "0000247095" "00024102" "10" "5605" "0" "5605" "0" "c.5605A>G" "r.(?)" "p.(Met1869Val)" "" "0000247095" "00001160" "10" "5445" "-584" "5445" "-584" "c.5445-584A>G" "r.(=)" "p.(=)" "" "0000247100" "00024102" "10" "5678" "0" "5678" "0" "c.5678A>G" "r.(?)" "p.(Lys1893Arg)" "" "0000247100" "00001160" "10" "5445" "-511" "5445" "-511" "c.5445-511A>G" "r.(=)" "p.(=)" "" "0000247110" "00024102" "10" "2232" "0" "2232" "0" "c.2232A>C" "r.(?)" "p.(Leu744=)" "" "0000247110" "00001160" "10" "2232" "0" "2232" "0" "c.2232A>C" "r.(?)" "p.(Leu744=)" "" "0000247111" "00024102" "10" "4296" "0" "4296" "0" "c.4296A>G" "r.(?)" "p.(Lys1432=)" "" "0000247111" "00001160" "10" "4152" "0" "4152" "0" "c.4152A>G" "r.(?)" "p.(Lys1384=)" "" "0000247112" "00024102" "10" "5853" "0" "5853" "0" "c.5853A>G" "r.(?)" "p.(Gln1951=)" "" "0000247112" "00001160" "10" "5604" "0" "5604" "0" "c.5604A>G" "r.(?)" "p.(Gln1868=)" "" "0000247162" "00024102" "30" "4090" "-50" "4090" "-50" "c.4090-50A>G" "r.(=)" "p.(=)" "" "0000247162" "00001160" "30" "3946" "-50" "3946" "-50" "c.3946-50A>G" "r.(=)" "p.(=)" "" "0000247181" "00024102" "50" "3772" "0" "3772" "0" "c.3772A>G" "r.(?)" "p.(Met1258Val)" "" "0000247181" "00001160" "50" "3712" "0" "3712" "0" "c.3712A>G" "r.(?)" "p.(Met1238Val)" "" "0000247182" "00024102" "50" "3034" "0" "3034" "0" "c.3034A>T" "r.(?)" "p.(Asn1012Tyr)" "" "0000247182" "00001160" "50" "2974" "0" "2974" "0" "c.2974A>T" "r.(?)" "p.(Asn992Tyr)" "" "0000248403" "00024102" "10" "5605" "0" "5605" "0" "c.5605A>G" "r.(?)" "p.(Met1869Val)" "" "0000248403" "00001160" "10" "5445" "-584" "5445" "-584" "c.5445-584A>G" "r.(=)" "p.(=)" "" "0000248446" "00024102" "10" "5678" "0" "5678" "0" "c.5678A>G" "r.(?)" "p.(Lys1893Arg)" "" "0000248446" "00001160" "10" "5445" "-511" "5445" "-511" "c.5445-511A>G" "r.(=)" "p.(=)" "" "0000251506" "00024102" "10" "1113" "26" "1113" "26" "c.1113+26A>C" "r.(=)" "p.(=)" "" "0000251506" "00001160" "10" "1113" "26" "1113" "26" "c.1113+26A>C" "r.(=)" "p.(=)" "" "0000252669" "00024102" "50" "3110" "0" "3110" "0" "c.3110A>G" "r.(?)" "p.(His1037Arg)" "" "0000252669" "00001160" "50" "3050" "0" "3050" "0" "c.3050A>G" "r.(?)" "p.(His1017Arg)" "" "0000254934" "00024102" "30" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Gln92Arg)" "" "0000254934" "00001160" "30" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Gln92Arg)" "" "0000263916" "00024102" "10" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Pro334=)" "" "0000263916" "00001160" "10" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Pro334=)" "" "0000263917" "00024102" "30" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Ala34Val)" "" "0000263917" "00001160" "30" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Ala34Val)" "" "0000263918" "00024102" "10" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000263918" "00001160" "10" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000263919" "00024102" "10" "1114" "-292" "1114" "-292" "c.1114-292C>T" "r.(=)" "p.(=)" "" "0000263919" "00001160" "10" "1114" "-292" "1114" "-292" "c.1114-292C>T" "r.(=)" "p.(=)" "" "0000263920" "00024102" "10" "1176" "0" "1176" "0" "c.1176G>T" "r.(?)" "p.(Gly392=)" "" "0000263920" "00001160" "10" "1176" "0" "1176" "0" "c.1176G>T" "r.(?)" "p.(Gly392=)" "" "0000263921" "00024102" "50" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.(Asp448Asn)" "" "0000263921" "00001160" "50" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.(Asp448Asn)" "" "0000263922" "00024102" "50" "1468" "0" "1468" "0" "c.1468G>A" "r.(?)" "p.(Gly490Arg)" "" "0000263922" "00001160" "50" "1468" "0" "1468" "0" "c.1468G>A" "r.(?)" "p.(Gly490Arg)" "" "0000263923" "00024102" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Gln)" "" "0000263923" "00001160" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Gln)" "" "0000263924" "00024102" "50" "1558" "0" "1558" "0" "c.1558G>A" "r.(?)" "p.(Ala520Thr)" "" "0000263924" "00001160" "50" "1558" "0" "1558" "0" "c.1558G>A" "r.(?)" "p.(Ala520Thr)" "" "0000263925" "00024102" "10" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Phe689=)" "" "0000263925" "00001160" "10" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Phe689=)" "" "0000263926" "00024102" "10" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Ala71=)" "" "0000263926" "00001160" "10" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Ala71=)" "" "0000263927" "00024102" "10" "2339" "18" "2339" "18" "c.2339+18C>T" "r.(=)" "p.(=)" "" "0000263927" "00001160" "10" "2339" "18" "2339" "18" "c.2339+18C>T" "r.(=)" "p.(=)" "" "0000263928" "00024102" "50" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Pro784Ser)" "" "0000263928" "00001160" "50" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Pro784Ser)" "" "0000263929" "00024102" "10" "2430" "0" "2430" "0" "c.2430G>T" "r.(?)" "p.(Thr810=)" "" "0000263929" "00001160" "10" "2430" "0" "2430" "0" "c.2430G>T" "r.(?)" "p.(Thr810=)" "" "0000263930" "00024102" "50" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Gly813Arg)" "" "0000263930" "00001160" "50" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Gly813Arg)" "" "0000263931" "00024102" "10" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000263931" "00001160" "10" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000263932" "00024102" "10" "2460" "6" "2460" "6" "c.2460+6G>A" "r.(=)" "p.(=)" "" "0000263932" "00001160" "10" "2460" "6" "2460" "6" "c.2460+6G>A" "r.(=)" "p.(=)" "" "0000263933" "00024102" "90" "2573" "0" "2573" "0" "c.2573G>A" "r.(?)" "p.(Arg858His)" "" "0000263933" "00001160" "90" "2573" "0" "2573" "0" "c.2573G>A" "r.(?)" "p.(Arg858His)" "" "0000263934" "00024102" "70" "2575" "0" "2575" "0" "c.2575C>T" "r.(?)" "p.(Pro859Ser)" "" "0000263934" "00001160" "70" "2575" "0" "2575" "0" "c.2575C>T" "r.(?)" "p.(Pro859Ser)" "" "0000263935" "00024102" "10" "2664" "-7" "2664" "-7" "c.2664-7C>T" "r.(=)" "p.(=)" "" "0000263935" "00001160" "10" "2664" "-7" "2664" "-7" "c.2664-7C>T" "r.(=)" "p.(=)" "" "0000263936" "00024102" "30" "2794" "-3" "2794" "0" "c.2794-3_2794del" "r.spl?" "p.?" "" "0000263936" "00001160" "30" "2794" "-3" "2794" "0" "c.2794-3_2794del" "r.spl?" "p.?" "" "0000263937" "00024102" "10" "2794" "-5" "2794" "-5" "c.2794-5T>C" "r.spl?" "p.?" "" "0000263937" "00001160" "10" "2794" "-5" "2794" "-5" "c.2794-5T>C" "r.spl?" "p.?" "" "0000263939" "00024102" "30" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Pro100=)" "" "0000263939" "00001160" "30" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Pro100=)" "" "0000263940" "00024102" "30" "3020" "7" "3020" "7" "c.3020+7G>C" "r.(=)" "p.(=)" "" "0000263940" "00001160" "30" "2960" "7" "2960" "7" "c.2960+7G>C" "r.(=)" "p.(=)" "" "0000263941" "00024102" "10" "3109" "-10" "3109" "-10" "c.3109-10C>T" "r.(=)" "p.(=)" "" "0000263941" "00001160" "10" "3049" "-10" "3049" "-10" "c.3049-10C>T" "r.(=)" "p.(=)" "" "0000263942" "00024102" "10" "3141" "0" "3141" "0" "c.3141G>A" "r.(?)" "p.(Arg1047=)" "" "0000263942" "00001160" "10" "3081" "0" "3081" "0" "c.3081G>A" "r.(?)" "p.(Arg1027=)" "" "0000263943" "00024102" "10" "3216" "17" "3216" "17" "c.3216+17G>A" "r.(=)" "p.(=)" "" "0000263943" "00001160" "10" "3156" "17" "3156" "17" "c.3156+17G>A" "r.(=)" "p.(=)" "" "0000263944" "00024102" "30" "3270" "-19" "3270" "-19" "c.3270-19C>A" "r.(=)" "p.(=)" "" "0000263944" "00001160" "30" "3210" "-19" "3210" "-19" "c.3210-19C>A" "r.(=)" "p.(=)" "" "0000263945" "00024102" "10" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Asp1098=)" "" "0000263945" "00001160" "10" "3234" "0" "3234" "0" "c.3234C>T" "r.(?)" "p.(Asp1078=)" "" "0000263946" "00024102" "10" "3447" "0" "3447" "0" "c.3447G>A" "r.(?)" "p.(Thr1149=)" "" "0000263946" "00001160" "10" "3387" "0" "3387" "0" "c.3387G>A" "r.(?)" "p.(Thr1129=)" "" "0000263947" "00024102" "10" "3702" "0" "3702" "0" "c.3702C>T" "r.(?)" "p.(Tyr1234=)" "" "0000263947" "00001160" "10" "3642" "0" "3642" "0" "c.3642C>T" "r.(?)" "p.(Tyr1214=)" "" "0000263948" "00024102" "10" "372" "-10" "372" "-10" "c.372-10C>T" "r.(=)" "p.(=)" "" "0000263948" "00001160" "10" "372" "-10" "372" "-10" "c.372-10C>T" "r.(=)" "p.(=)" "" "0000263949" "00024102" "10" "372" "-15" "372" "-15" "c.372-15G>A" "r.(=)" "p.(=)" "" "0000263949" "00001160" "10" "372" "-15" "372" "-15" "c.372-15G>A" "r.(=)" "p.(=)" "" "0000263950" "00024102" "10" "3840" "0" "3840" "0" "c.3840C>A" "r.(?)" "p.(Gly1280=)" "" "0000263950" "00001160" "10" "3780" "0" "3780" "0" "c.3780C>A" "r.(?)" "p.(Gly1260=)" "" "0000263951" "00024102" "10" "3846" "0" "3846" "0" "c.3846C>T" "r.(?)" "p.(Phe1282=)" "" "0000263951" "00001160" "10" "3786" "0" "3786" "0" "c.3786C>T" "r.(?)" "p.(Phe1262=)" "" "0000263952" "00024102" "30" "4090" "-63" "4090" "-63" "c.4090-63C>T" "r.(=)" "p.(=)" "" "0000263952" "00001160" "30" "3946" "-63" "3946" "-63" "c.3946-63C>T" "r.(=)" "p.(=)" "" "0000263953" "00024102" "10" "4090" "-45" "4090" "-45" "c.4090-45C>G" "r.(=)" "p.(=)" "" "0000263953" "00001160" "10" "3946" "-45" "3946" "-45" "c.3946-45C>G" "r.(=)" "p.(=)" "" "0000263954" "00024102" "10" "4090" "-44" "4090" "-44" "c.4090-44C>G" "r.(=)" "p.(=)" "" "0000263954" "00001160" "10" "3946" "-44" "3946" "-44" "c.3946-44C>G" "r.(=)" "p.(=)" "" "0000263955" "00024102" "10" "3972" "15" "3972" "15" "c.3972+15G>A" "r.(=)" "p.(=)" "" "0000263955" "00001160" "10" "3829" "-570" "3829" "-570" "c.3829-570G>A" "r.(=)" "p.(=)" "" "0000263956" "00024102" "30" "4090" "-12" "4090" "-12" "c.4090-12G>A" "r.(=)" "p.(=)" "" "0000263956" "00001160" "30" "3946" "-12" "3946" "-12" "c.3946-12G>A" "r.(=)" "p.(=)" "" "0000263957" "00024102" "10" "4090" "-10" "4090" "-10" "c.4090-10C>T" "r.(=)" "p.(=)" "" "0000263957" "00001160" "10" "3946" "-10" "3946" "-10" "c.3946-10C>T" "r.(=)" "p.(=)" "" "0000263958" "00024102" "30" "4092" "0" "4092" "0" "c.4092C>T" "r.(?)" "p.(Asn1364=)" "" "0000263958" "00001160" "30" "3948" "0" "3948" "0" "c.3948C>T" "r.(?)" "p.(Asn1316=)" "" "0000263959" "00024102" "10" "4182" "0" "4182" "0" "c.4182C>T" "r.(?)" "p.(Ile1394=)" "" "0000263959" "00001160" "10" "4038" "0" "4038" "0" "c.4038C>T" "r.(?)" "p.(Ile1346=)" "" "0000263960" "00024102" "10" "4376" "18" "4376" "18" "c.4376+18T>G" "r.(=)" "p.(=)" "" "0000263960" "00001160" "10" "4232" "18" "4232" "18" "c.4232+18T>G" "r.(=)" "p.(=)" "" "0000263961" "00024102" "10" "4629" "0" "4629" "0" "c.4629T>C" "r.(?)" "p.(Asp1543=)" "" "0000263961" "00001160" "10" "4485" "0" "4485" "0" "c.4485T>C" "r.(?)" "p.(Asp1495=)" "" "0000263962" "00024102" "10" "4768" "-9" "4768" "-9" "c.4768-9C>T" "r.(=)" "p.(=)" "" "0000263962" "00001160" "10" "4624" "-9" "4624" "-9" "c.4624-9C>T" "r.(=)" "p.(=)" "" "0000263963" "00024102" "10" "477" "13" "477" "13" "c.477+13T>C" "r.(=)" "p.(=)" "" "0000263963" "00001160" "10" "477" "13" "477" "13" "c.477+13T>C" "r.(=)" "p.(=)" "" "0000263964" "00024102" "10" "4870" "13" "4870" "13" "c.4870+13G>A" "r.(=)" "p.(=)" "" "0000263964" "00001160" "10" "4726" "13" "4726" "13" "c.4726+13G>A" "r.(=)" "p.(=)" "" "0000263965" "00024102" "10" "4973" "-7" "4973" "-7" "c.4973-7G>A" "r.(=)" "p.(=)" "" "0000263965" "00001160" "10" "4829" "-7" "4829" "-7" "c.4829-7G>A" "r.(=)" "p.(=)" "" "0000263966" "00024102" "30" "5085" "0" "5085" "0" "c.5085C>T" "r.(?)" "p.(Asn1695=)" "" "0000263966" "00001160" "30" "4941" "0" "4941" "0" "c.4941C>T" "r.(?)" "p.(Asn1647=)" "" "0000263967" "00024102" "30" "5086" "0" "5086" "0" "c.5086G>A" "r.(?)" "p.(Ala1696Thr)" "" "0000263967" "00001160" "30" "4942" "0" "4942" "0" "c.4942G>A" "r.(?)" "p.(Ala1648Thr)" "" "0000263968" "00024102" "10" "5100" "17" "5100" "17" "c.5100+17G>A" "r.(=)" "p.(=)" "" "0000263968" "00001160" "10" "4956" "17" "4956" "17" "c.4956+17G>A" "r.(=)" "p.(=)" "" "0000263969" "00024102" "10" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Ala174=)" "" "0000263969" "00001160" "10" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Ala174=)" "" "0000263970" "00024102" "10" "5235" "3" "5235" "3" "c.5235+3G>A" "r.spl?" "p.?" "" "0000263970" "00001160" "10" "5091" "3" "5091" "3" "c.5091+3G>A" "r.spl?" "p.?" "" "0000263971" "00024102" "10" "5241" "0" "5241" "0" "c.5241C>T" "r.(?)" "p.(Ala1747=)" "" "0000263971" "00001160" "10" "5097" "0" "5097" "0" "c.5097C>T" "r.(?)" "p.(Ala1699=)" "" "0000263972" "00024102" "30" "5263" "0" "5263" "0" "c.5263G>A" "r.(?)" "p.(Val1755Ile)" "" "0000263972" "00001160" "30" "5119" "0" "5119" "0" "c.5119G>A" "r.(?)" "p.(Val1707Ile)" "" "0000263973" "00024102" "10" "5283" "0" "5283" "0" "c.5283C>T" "r.(?)" "p.(Asp1761=)" "" "0000263973" "00001160" "10" "5139" "0" "5139" "0" "c.5139C>T" "r.(?)" "p.(Asp1713=)" "" "0000263974" "00024102" "30" "5293" "0" "5293" "0" "c.5293G>A" "r.(?)" "p.(Ala1765Thr)" "" "0000263974" "00001160" "30" "5149" "0" "5149" "0" "c.5149G>A" "r.(?)" "p.(Ala1717Thr)" "" "0000263975" "00024102" "10" "5343" "0" "5343" "0" "c.5343G>A" "r.(?)" "p.(Ala1781=)" "" "0000263975" "00001160" "10" "5199" "0" "5199" "0" "c.5199G>A" "r.(?)" "p.(Ala1733=)" "" "0000263976" "00024102" "10" "5358" "0" "5358" "0" "c.5358C>A" "r.(?)" "p.(Gly1786=)" "" "0000263976" "00001160" "10" "5214" "0" "5214" "0" "c.5214C>A" "r.(?)" "p.(Gly1738=)" "" "0000263977" "00024102" "10" "5436" "0" "5436" "0" "c.5436C>T" "r.(?)" "p.(Asn1812=)" "" "0000263977" "00001160" "10" "5292" "0" "5292" "0" "c.5292C>T" "r.(?)" "p.(Asn1764=)" "" "0000263978" "00024102" "10" "5504" "0" "5504" "0" "c.5504C>T" "r.(?)" "p.(Thr1835Met)" "" "0000263978" "00001160" "10" "5360" "0" "5360" "0" "c.5360C>T" "r.(?)" "p.(Thr1787Met)" "" "0000263979" "00024102" "10" "5505" "0" "5505" "0" "c.5505G>A" "r.(?)" "p.(Thr1835=)" "" "0000263979" "00001160" "10" "5361" "0" "5361" "0" "c.5361G>A" "r.(?)" "p.(Thr1787=)" "" "0000263980" "00024102" "10" "5527" "0" "5527" "0" "c.5527G>A" "r.(?)" "p.(Gly1843Arg)" "" "0000263980" "00001160" "10" "5383" "0" "5383" "0" "c.5383G>A" "r.(?)" "p.(Gly1795Arg)" "" "0000263981" "00024102" "10" "5568" "0" "5568" "0" "c.5568G>A" "r.(?)" "p.(Ala1856=)" "" "0000263981" "00001160" "10" "5424" "0" "5424" "0" "c.5424G>A" "r.(?)" "p.(Ala1808=)" "" "0000263982" "00024102" "10" "5603" "0" "5603" "0" "c.5603C>T" "r.(?)" "p.(Pro1868Leu)" "" "0000263982" "00001160" "10" "5445" "-586" "5445" "-586" "c.5445-586C>T" "r.(=)" "p.(=)" "" "0000263983" "00024102" "30" "5588" "774" "5588" "774" "c.5588+774T>A" "r.(=)" "p.(=)" "" "0000263983" "00001160" "30" "5444" "774" "5444" "774" "c.5444+774T>A" "r.(=)" "p.(=)" "" "0000263984" "00024102" "30" "5690" "0" "5690" "0" "c.5690C>G" "r.(?)" "p.(Ser1897Cys)" "" "0000263984" "00001160" "30" "5445" "-499" "5445" "-499" "c.5445-499C>G" "r.(=)" "p.(=)" "" "0000263985" "00024102" "10" "5700" "0" "5700" "0" "c.5700C>T" "r.(?)" "p.(His1900=)" "" "0000263985" "00001160" "10" "5451" "0" "5451" "0" "c.5451C>T" "r.(?)" "p.(His1817=)" "" "0000263986" "00024102" "10" "5799" "0" "5799" "0" "c.5799G>A" "r.(?)" "p.(Glu1933=)" "" "0000263986" "00001160" "10" "5550" "0" "5550" "0" "c.5550G>A" "r.(?)" "p.(Glu1850=)" "" "0000263987" "00024102" "10" "5842" "0" "5842" "0" "c.5842G>A" "r.(?)" "p.(Glu1948Lys)" "" "0000263987" "00001160" "10" "5593" "0" "5593" "0" "c.5593G>A" "r.(?)" "p.(Glu1865Lys)" "" "0000263988" "00024102" "10" "5858" "0" "5858" "0" "c.5858C>T" "r.(?)" "p.(Thr1953Met)" "" "0000263988" "00001160" "10" "5609" "0" "5609" "0" "c.5609C>T" "r.(?)" "p.(Thr1870Met)" "" "0000263989" "00024102" "10" "5886" "0" "5886" "0" "c.5886C>A" "r.(?)" "p.(Ile1962=)" "" "0000263989" "00001160" "10" "5637" "0" "5637" "0" "c.5637C>A" "r.(?)" "p.(Ile1879=)" "" "0000263990" "00024102" "10" "5898" "0" "5898" "0" "c.5898G>A" "r.(?)" "p.(Pro1966=)" "" "0000263990" "00001160" "10" "5649" "0" "5649" "0" "c.5649G>A" "r.(?)" "p.(Pro1883=)" "" "0000263991" "00024102" "10" "5914" "0" "5914" "0" "c.5914C>T" "r.(?)" "p.(Arg1972Cys)" "" "0000263991" "00001160" "10" "5665" "0" "5665" "0" "c.5665C>T" "r.(?)" "p.(Arg1889Cys)" "" "0000263992" "00024102" "10" "5929" "11" "5929" "11" "c.5929+11C>T" "r.(=)" "p.(=)" "" "0000263992" "00001160" "10" "5680" "11" "5680" "11" "c.5680+11C>T" "r.(=)" "p.(=)" "" "0000263993" "00024102" "10" "5929" "15" "5929" "15" "c.5929+15C>T" "r.(=)" "p.(=)" "" "0000263993" "00001160" "10" "5680" "15" "5680" "15" "c.5680+15C>T" "r.(=)" "p.(=)" "" "0000263994" "00024102" "10" "5929" "16" "5929" "16" "c.5929+16G>A" "r.(=)" "p.(=)" "" "0000263994" "00001160" "10" "5680" "16" "5680" "16" "c.5680+16G>A" "r.(=)" "p.(=)" "" "0000263995" "00024102" "10" "615" "0" "615" "0" "c.615G>T" "r.(?)" "p.(Val205=)" "" "0000263995" "00001160" "10" "615" "0" "615" "0" "c.615G>T" "r.(?)" "p.(Val205=)" "" "0000263996" "00024102" "10" "617" "17" "617" "17" "c.617+17G>A" "r.(=)" "p.(=)" "" "0000263996" "00001160" "10" "617" "17" "617" "17" "c.617+17G>A" "r.(=)" "p.(=)" "" "0000263997" "00024102" "10" "617" "19" "617" "19" "c.617+19T>C" "r.(=)" "p.(=)" "" "0000263997" "00001160" "10" "617" "19" "617" "19" "c.617+19T>C" "r.(=)" "p.(=)" "" "0000263998" "00024102" "50" "6365" "0" "6365" "0" "c.6365C>G" "r.(?)" "p.(Ala2122Gly)" "" "0000263998" "00001160" "50" "6116" "0" "6116" "0" "c.6116C>G" "r.(?)" "p.(Ala2039Gly)" "" "0000263999" "00024102" "10" "6366" "12" "6366" "12" "c.6366+12G>A" "r.(=)" "p.(=)" "" "0000263999" "00001160" "10" "6117" "12" "6117" "12" "c.6117+12G>A" "r.(=)" "p.(=)" "" "0000264000" "00024102" "10" "6591" "0" "6591" "0" "c.6591G>A" "r.(?)" "p.(Ala2197=)" "" "0000264000" "00001160" "10" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(Ala2114=)" "" "0000264001" "00024102" "10" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Val257=)" "" "0000264001" "00001160" "10" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Val257=)" "" "0000264002" "00024102" "10" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Leu276=)" "" "0000264002" "00001160" "10" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Leu276=)" "" "0000264003" "00024102" "30" "911" "0" "911" "0" "c.911T>C" "r.(?)" "p.(Ile304Thr)" "" "0000264003" "00001160" "30" "911" "0" "911" "0" "c.911T>C" "r.(?)" "p.(Ile304Thr)" "" "0000264004" "00024102" "10" "916" "12" "916" "16" "c.916+12_916+16del" "r.(=)" "p.(=)" "" "0000264004" "00001160" "10" "916" "12" "916" "16" "c.916+12_916+16del" "r.(=)" "p.(=)" "" "0000264005" "00024102" "10" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(His322=)" "" "0000264005" "00001160" "10" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(His322=)" "" "0000264006" "00024102" "10" "990" "0" "990" "0" "c.990G>A" "r.(?)" "p.(Thr330=)" "" "0000264006" "00001160" "10" "990" "0" "990" "0" "c.990G>A" "r.(?)" "p.(Thr330=)" "" "0000264008" "00024102" "10" "6305" "0" "6305" "0" "c.6305C>G" "r.(?)" "p.(Pro2102Arg)" "" "0000264008" "00001160" "10" "6056" "0" "6056" "0" "c.6056C>G" "r.(?)" "p.(Pro2019Arg)" "" "0000266428" "00024102" "30" "2531" "-15" "2531" "-15" "c.2531-15C>T" "r.(=)" "p.(=)" "" "0000266428" "00001160" "30" "2531" "-15" "2531" "-15" "c.2531-15C>T" "r.(=)" "p.(=)" "" "0000266429" "00024102" "30" "3840" "0" "3840" "0" "c.3840C>A" "r.(?)" "p.(Gly1280=)" "" "0000266429" "00001160" "30" "3780" "0" "3780" "0" "c.3780C>A" "r.(?)" "p.(Gly1260=)" "" "0000266430" "00024102" "10" "5505" "0" "5505" "0" "c.5505G>A" "r.(?)" "p.(Thr1835=)" "" "0000266430" "00001160" "10" "5361" "0" "5361" "0" "c.5361G>A" "r.(?)" "p.(Thr1787=)" "" "0000266431" "00024102" "10" "5603" "0" "5603" "0" "c.5603C>T" "r.(?)" "p.(Pro1868Leu)" "" "0000266431" "00001160" "10" "5445" "-586" "5445" "-586" "c.5445-586C>T" "r.(=)" "p.(=)" "" "0000266432" "00024102" "30" "5858" "0" "5858" "0" "c.5858C>T" "r.(?)" "p.(Thr1953Met)" "" "0000266432" "00001160" "30" "5609" "0" "5609" "0" "c.5609C>T" "r.(?)" "p.(Thr1870Met)" "" "0000269564" "00024102" "10" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000269564" "00001160" "10" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000269565" "00024102" "30" "1113" "23" "1113" "23" "c.1113+23C>A" "r.(=)" "p.(=)" "" "0000269565" "00001160" "30" "1113" "23" "1113" "23" "c.1113+23C>A" "r.(=)" "p.(=)" "" "0000269566" "00024102" "70" "1552" "0" "1552" "0" "c.1552C>A" "r.(?)" "p.(Arg518Ser)" "" "0000269566" "00001160" "70" "1552" "0" "1552" "0" "c.1552C>A" "r.(?)" "p.(Arg518Ser)" "" "0000269567" "00024102" "30" "1895" "13" "1895" "13" "c.1895+13C>T" "r.(=)" "p.(=)" "" "0000269567" "00001160" "30" "1895" "13" "1895" "13" "c.1895+13C>T" "r.(=)" "p.(=)" "" "0000269568" "00024102" "30" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000269568" "00001160" "30" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000269569" "00024102" "10" "2460" "6" "2460" "6" "c.2460+6G>A" "r.(=)" "p.(=)" "" "0000269569" "00001160" "10" "2460" "6" "2460" "6" "c.2460+6G>A" "r.(=)" "p.(=)" "" "0000269570" "00024102" "30" "2530" "13" "2530" "13" "c.2530+13C>T" "r.(=)" "p.(=)" "" "0000269570" "00001160" "30" "2530" "13" "2530" "13" "c.2530+13C>T" "r.(=)" "p.(=)" "" "0000269571" "00024102" "70" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Arg860Gln)" "" "0000269571" "00001160" "70" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Arg860Gln)" "" "0000269572" "00024102" "30" "3021" "-43" "3021" "-43" "c.3021-43G>A" "r.(=)" "p.(=)" "" "0000269572" "00001160" "30" "2961" "-43" "2961" "-43" "c.2961-43G>A" "r.(=)" "p.(=)" "" "0000269573" "00024102" "10" "372" "-15" "372" "-15" "c.372-15G>A" "r.(=)" "p.(=)" "" "0000269573" "00001160" "10" "372" "-15" "372" "-15" "c.372-15G>A" "r.(=)" "p.(=)" "" "0000269574" "00024102" "10" "5929" "11" "5929" "11" "c.5929+11C>T" "r.(=)" "p.(=)" "" "0000269574" "00001160" "10" "5680" "11" "5680" "11" "c.5680+11C>T" "r.(=)" "p.(=)" "" "0000272454" "00024102" "30" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Val376Leu)" "" "0000272454" "00001160" "30" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Val376Leu)" "" "0000272455" "00024102" "30" "118" "0" "118" "0" "c.118C>G" "r.(?)" "p.(Pro40Ala)" "" "0000272455" "00001160" "30" "118" "0" "118" "0" "c.118C>G" "r.(?)" "p.(Pro40Ala)" "" "0000272456" "00024102" "10" "1391" "-27" "1391" "-27" "c.1391-27G>T" "r.(=)" "p.(=)" "" "0000272456" "00001160" "10" "1391" "-27" "1391" "-27" "c.1391-27G>T" "r.(=)" "p.(=)" "" "0000272457" "00024102" "50" "1468" "0" "1468" "0" "c.1468G>A" "r.(?)" "p.(Gly490Arg)" "" "0000272457" "00001160" "50" "1468" "0" "1468" "0" "c.1468G>A" "r.(?)" "p.(Gly490Arg)" "" "0000272458" "00024102" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Val585Met)" "" "0000272458" "00001160" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Val585Met)" "" "0000272459" "00024102" "30" "2073" "0" "2073" "0" "c.2073C>T" "r.(?)" "p.(Asn691=)" "" "0000272459" "00001160" "30" "2073" "0" "2073" "0" "c.2073C>T" "r.(?)" "p.(Asn691=)" "" "0000272460" "00024102" "30" "3627" "0" "3627" "0" "c.3627C>T" "r.(?)" "p.(Cys1209=)" "" "0000272460" "00001160" "30" "3567" "0" "3567" "0" "c.3567C>T" "r.(?)" "p.(Cys1189=)" "" "0000272461" "00024102" "30" "3702" "0" "3702" "0" "c.3702C>T" "r.(?)" "p.(Tyr1234=)" "" "0000272461" "00001160" "30" "3642" "0" "3642" "0" "c.3642C>T" "r.(?)" "p.(Tyr1214=)" "" "0000272462" "00024102" "30" "3840" "0" "3840" "0" "c.3840C>A" "r.(?)" "p.(Gly1280=)" "" "0000272462" "00001160" "30" "3780" "0" "3780" "0" "c.3780C>A" "r.(?)" "p.(Gly1260=)" "" "0000272463" "00024102" "30" "4272" "0" "4272" "0" "c.4272G>A" "r.(?)" "p.(Val1424=)" "" "0000272463" "00001160" "30" "4128" "0" "4128" "0" "c.4128G>A" "r.(?)" "p.(Val1376=)" "" "0000272464" "00024102" "50" "4804" "0" "4804" "0" "c.4804G>A" "r.(?)" "p.(Gly1602Arg)" "" "0000272464" "00001160" "50" "4660" "0" "4660" "0" "c.4660G>A" "r.(?)" "p.(Gly1554Arg)" "" "0000272465" "00024102" "30" "5343" "0" "5343" "0" "c.5343G>A" "r.(?)" "p.(Ala1781=)" "" "0000272465" "00001160" "30" "5199" "0" "5199" "0" "c.5199G>A" "r.(?)" "p.(Ala1733=)" "" "0000272466" "00024102" "30" "5421" "0" "5421" "0" "c.5421G>A" "r.(?)" "p.(Ser1807=)" "" "0000272466" "00001160" "30" "5277" "0" "5277" "0" "c.5277G>A" "r.(?)" "p.(Ser1759=)" "" "0000272467" "00024102" "50" "5428" "0" "5428" "0" "c.5428G>C" "r.(?)" "p.(Gly1810Arg)" "" "0000272467" "00001160" "50" "5284" "0" "5284" "0" "c.5284G>C" "r.(?)" "p.(Gly1762Arg)" "" "0000272468" "00024102" "30" "5588" "664" "5588" "664" "c.5588+664C>T" "r.(=)" "p.(=)" "" "0000272468" "00001160" "30" "5444" "664" "5444" "664" "c.5444+664C>T" "r.(=)" "p.(=)" "" "0000272469" "00024102" "10" "5842" "0" "5842" "0" "c.5842G>A" "r.(?)" "p.(Glu1948Lys)" "" "0000272469" "00001160" "10" "5593" "0" "5593" "0" "c.5593G>A" "r.(?)" "p.(Glu1865Lys)" "" "0000272470" "00024102" "30" "618" "-7" "618" "-7" "c.618-7C>T" "r.(=)" "p.(=)" "" "0000272470" "00001160" "30" "618" "-7" "618" "-7" "c.618-7C>T" "r.(=)" "p.(=)" "" "0000322618" "00024102" "50" "618" "0" "618" "0" "c.618G>A" "r.(?)" "p.(Gly206=)" "" "0000322618" "00001160" "50" "618" "0" "618" "0" "c.618G>A" "r.(?)" "p.(Gly206=)" "" "0000322619" "00024102" "50" "815" "0" "815" "0" "c.815C>T" "r.(?)" "p.(Ala272Val)" "" "0000322619" "00001160" "50" "815" "0" "815" "0" "c.815C>T" "r.(?)" "p.(Ala272Val)" "" "0000322620" "00024102" "50" "1453" "0" "1453" "0" "c.1453G>A" "r.(?)" "p.(Glu485Lys)" "" "0000322620" "00001160" "50" "1453" "0" "1453" "0" "c.1453G>A" "r.(?)" "p.(Glu485Lys)" "" "0000322621" "00024102" "50" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Gly813Arg)" "" "0000322621" "00001160" "50" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Gly813Arg)" "" "0000322623" "00024102" "30" "3157" "0" "3157" "0" "c.3157G>A" "r.(?)" "p.(Val1053Met)" "" "0000322623" "00001160" "30" "3097" "0" "3097" "0" "c.3097G>A" "r.(?)" "p.(Val1033Met)" "" "0000322624" "00024102" "50" "3391" "0" "3391" "0" "c.3391G>A" "r.(?)" "p.(Val1131Ile)" "" "0000322624" "00001160" "50" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Val1111Ile)" "" "0000405534" "00024102" "50" "2573" "0" "2573" "0" "c.2573G>A" "r.(?)" "p.(Arg858His)" "19" "0000547468" "00024102" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Glu12=)" "" "0000547468" "00001160" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Glu12=)" "" "0000547613" "00024102" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000547613" "00001160" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000547614" "00024102" "10" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000547614" "00001160" "10" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000547615" "00024102" "10" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Asp57=)" "" "0000547615" "00001160" "10" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Asp57=)" "" "0000547616" "00024102" "10" "372" "-15" "372" "-15" "c.372-15G>A" "r.(=)" "p.(=)" "" "0000547616" "00001160" "10" "372" "-15" "372" "-15" "c.372-15G>A" "r.(=)" "p.(=)" "" "0000547617" "00024102" "50" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(Asn156Ser)" "" "0000547617" "00001160" "50" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(Asn156Ser)" "" "0000547657" "00024102" "50" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Thr171=)" "" "0000547657" "00001160" "50" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Thr171=)" "" "0000547658" "00024102" "50" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Asn188Ser)" "" "0000547658" "00001160" "50" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Asn188Ser)" "" "0000547659" "00024102" "10" "579" "0" "579" "0" "c.579C>T" "r.(?)" "p.(Asn193=)" "" "0000547659" "00001160" "10" "579" "0" "579" "0" "c.579C>T" "r.(?)" "p.(Asn193=)" "" "0000547661" "00024102" "30" "792" "0" "792" "0" "c.792C>A" "r.(?)" "p.(Ala264=)" "" "0000547661" "00001160" "30" "792" "0" "792" "0" "c.792C>A" "r.(?)" "p.(Ala264=)" "" "0000547664" "00024102" "50" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324Gln)" "" "0000547664" "00001160" "50" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324Gln)" "" "0000547665" "00024102" "10" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(Asn328=)" "" "0000547665" "00001160" "10" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(Asn328=)" "" "0000547667" "00024102" "30" "1098" "0" "1098" "0" "c.1098G>A" "r.(?)" "p.(Thr366=)" "" "0000547667" "00001160" "30" "1098" "0" "1098" "0" "c.1098G>A" "r.(?)" "p.(Thr366=)" "" "0000547668" "00024102" "90" "1114" "-316" "1114" "-316" "c.1114-316G>A" "r.(=)" "p.(=)" "" "0000547668" "00001160" "90" "1114" "-316" "1114" "-316" "c.1114-316G>A" "r.(=)" "p.(=)" "" "0000547669" "00024102" "30" "1176" "0" "1176" "0" "c.1176G>A" "r.(?)" "p.(Gly392=)" "" "0000547669" "00001160" "30" "1176" "0" "1176" "0" "c.1176G>A" "r.(?)" "p.(Gly392=)" "" "0000547670" "00024102" "10" "1176" "0" "1176" "0" "c.1176G>T" "r.(?)" "p.(Gly392=)" "" "0000547670" "00001160" "10" "1176" "0" "1176" "0" "c.1176G>T" "r.(?)" "p.(Gly392=)" "" "0000547671" "00024102" "90" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Arg)" "" "0000547671" "00001160" "90" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Arg)" "" "0000547672" "00024102" "10" "1217" "10" "1217" "10" "c.1217+10A>C" "r.(=)" "p.(=)" "" "0000547672" "00001160" "10" "1217" "10" "1217" "10" "c.1217+10A>C" "r.(=)" "p.(=)" "" "0000547673" "00024102" "10" "1217" "13" "1217" "13" "c.1217+13A>G" "r.(=)" "p.(=)" "" "0000547673" "00001160" "10" "1217" "13" "1217" "13" "c.1217+13A>G" "r.(=)" "p.(=)" "" "0000547674" "00024102" "10" "1332" "0" "1332" "0" "c.1332C>T" "r.(?)" "p.(Ala444=)" "" "0000547674" "00001160" "10" "1332" "0" "1332" "0" "c.1332C>T" "r.(?)" "p.(Ala444=)" "" "0000547676" "00024102" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "0000547676" "00001160" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "0000547680" "00024102" "10" "1524" "0" "1524" "0" "c.1524G>A" "r.(?)" "p.(Arg508=)" "" "0000547680" "00001160" "10" "1524" "0" "1524" "0" "c.1524G>A" "r.(?)" "p.(Arg508=)" "" "0000547682" "00024102" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Ala519Thr)" "" "0000547682" "00001160" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Ala519Thr)" "" "0000547683" "00024102" "10" "1599" "0" "1599" "0" "c.1599G>A" "r.(?)" "p.(Leu533=)" "" "0000547683" "00001160" "10" "1599" "0" "1599" "0" "c.1599G>A" "r.(?)" "p.(Leu533=)" "" "0000547684" "00024102" "10" "1670" "-19" "1670" "-19" "c.1670-19C>G" "r.(=)" "p.(=)" "" "0000547684" "00001160" "10" "1670" "-19" "1670" "-19" "c.1670-19C>G" "r.(=)" "p.(=)" "" "0000547689" "00024102" "30" "2225" "-8" "2225" "-8" "c.2225-8A>C" "r.(=)" "p.(=)" "" "0000547689" "00001160" "30" "2225" "-8" "2225" "-8" "c.2225-8A>C" "r.(=)" "p.(=)" "" "0000547690" "00024102" "10" "2339" "20" "2339" "20" "c.2339+20C>A" "r.(=)" "p.(=)" "" "0000547690" "00001160" "10" "2339" "20" "2339" "20" "c.2339+20C>A" "r.(=)" "p.(=)" "" "0000547691" "00024102" "30" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Pro784Ser)" "" "0000547691" "00001160" "30" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Pro784Ser)" "" "0000547692" "00024102" "30" "2362" "0" "2362" "0" "c.2362C>G" "r.(?)" "p.(Gln788Glu)" "" "0000547692" "00001160" "30" "2362" "0" "2362" "0" "c.2362C>G" "r.(?)" "p.(Gln788Glu)" "" "0000547693" "00024102" "30" "2430" "0" "2430" "0" "c.2430G>A" "r.(?)" "p.(Thr810=)" "" "0000547693" "00001160" "30" "2430" "0" "2430" "0" "c.2430G>A" "r.(?)" "p.(Thr810=)" "" "0000547694" "00024102" "10" "2436" "0" "2436" "0" "c.2436C>T" "r.(?)" "p.(Asp812=)" "" "0000547694" "00001160" "10" "2436" "0" "2436" "0" "c.2436C>T" "r.(?)" "p.(Asp812=)" "" "0000547695" "00024102" "30" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000547695" "00001160" "30" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000547697" "00024102" "30" "2548" "0" "2550" "0" "c.2548_2550del" "r.(?)" "p.(Glu850del)" "" "0000547697" "00001160" "30" "2548" "0" "2550" "0" "c.2548_2550del" "r.(?)" "p.(Glu850del)" "" "0000547699" "00024102" "90" "2573" "0" "2573" "0" "c.2573G>A" "r.(?)" "p.(Arg858His)" "" "0000547699" "00001160" "90" "2573" "0" "2573" "0" "c.2573G>A" "r.(?)" "p.(Arg858His)" "" "0000547700" "00024102" "50" "2636" "0" "2636" "0" "c.2636C>T" "r.(?)" "p.(Ala879Val)" "" "0000547700" "00001160" "50" "2636" "0" "2636" "0" "c.2636C>T" "r.(?)" "p.(Ala879Val)" "" "0000547701" "00024102" "30" "2795" "0" "2796" "0" "c.2795_2796insGAGC" "r.(?)" "p.(Ile932MetfsTer7)" "" "0000547701" "00001160" "30" "2795" "0" "2796" "0" "c.2795_2796insGAGC" "r.(?)" "p.(Ile932MetfsTer7)" "" "0000547702" "00024102" "10" "3109" "-10" "3109" "-10" "c.3109-10C>T" "r.(=)" "p.(=)" "" "0000547702" "00001160" "10" "3049" "-10" "3049" "-10" "c.3049-10C>T" "r.(=)" "p.(=)" "" "0000547703" "00024102" "50" "3110" "0" "3110" "0" "c.3110A>G" "r.(?)" "p.(His1037Arg)" "" "0000547703" "00001160" "50" "3050" "0" "3050" "0" "c.3050A>G" "r.(?)" "p.(His1017Arg)" "" "0000547704" "00024102" "10" "3216" "12" "3216" "12" "c.3216+12G>T" "r.(=)" "p.(=)" "" "0000547704" "00001160" "10" "3156" "12" "3156" "12" "c.3156+12G>T" "r.(=)" "p.(=)" "" "0000547705" "00024102" "30" "3216" "17" "3216" "17" "c.3216+17G>A" "r.(=)" "p.(=)" "" "0000547705" "00001160" "30" "3156" "17" "3156" "17" "c.3156+17G>A" "r.(=)" "p.(=)" "" "0000547706" "00024102" "30" "3261" "0" "3261" "0" "c.3261G>A" "r.(?)" "p.(Ala1087=)" "" "0000547706" "00001160" "30" "3201" "0" "3201" "0" "c.3201G>A" "r.(?)" "p.(Ala1067=)" "" "0000547707" "00024102" "10" "3269" "12" "3269" "12" "c.3269+12T>C" "r.(=)" "p.(=)" "" "0000547707" "00001160" "10" "3209" "12" "3209" "12" "c.3209+12T>C" "r.(=)" "p.(=)" "" "0000547708" "00024102" "10" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Asp1098=)" "" "0000547708" "00001160" "10" "3234" "0" "3234" "0" "c.3234C>T" "r.(?)" "p.(Asp1078=)" "" "0000547709" "00024102" "30" "3501" "0" "3501" "0" "c.3501C>T" "r.(?)" "p.(Ile1167=)" "" "0000547709" "00001160" "30" "3441" "0" "3441" "0" "c.3441C>T" "r.(?)" "p.(Ile1147=)" "" "0000547710" "00024102" "10" "3714" "0" "3714" "0" "c.3714C>T" "r.(?)" "p.(Ser1238=)" "" "0000547710" "00001160" "10" "3654" "0" "3654" "0" "c.3654C>T" "r.(?)" "p.(Ser1218=)" "" "0000547711" "00024102" "50" "3772" "0" "3772" "0" "c.3772A>G" "r.(?)" "p.(Met1258Val)" "" "0000547711" "00001160" "50" "3712" "0" "3712" "0" "c.3712A>G" "r.(?)" "p.(Met1238Val)" "" "0000547715" "00024102" "10" "4212" "0" "4212" "0" "c.4212C>T" "r.(?)" "p.(Ser1404=)" "" "0000547715" "00001160" "10" "4068" "0" "4068" "0" "c.4068C>T" "r.(?)" "p.(Ser1356=)" "" "0000547716" "00024102" "30" "4218" "7" "4218" "7" "c.4218+7G>A" "r.(=)" "p.(=)" "" "0000547716" "00001160" "30" "4074" "7" "4074" "7" "c.4074+7G>A" "r.(=)" "p.(=)" "" "0000547717" "00024102" "30" "4314" "0" "4314" "0" "c.4314C>T" "r.(?)" "p.(Thr1438=)" "" "0000547717" "00001160" "30" "4170" "0" "4170" "0" "c.4170C>T" "r.(?)" "p.(Thr1390=)" "" "0000547718" "00024102" "10" "4449" "0" "4449" "0" "c.4449C>T" "r.(?)" "p.(Ser1483=)" "" "0000547718" "00001160" "10" "4305" "0" "4305" "0" "c.4305C>T" "r.(?)" "p.(Ser1435=)" "" "0000547719" "00024102" "10" "4629" "0" "4629" "0" "c.4629T>C" "r.(?)" "p.(Asp1543=)" "" "0000547719" "00001160" "10" "4485" "0" "4485" "0" "c.4485T>C" "r.(?)" "p.(Asp1495=)" "" "0000547720" "00024102" "30" "4659" "0" "4659" "0" "c.4659C>T" "r.(?)" "p.(Asp1553=)" "" "0000547720" "00001160" "30" "4515" "0" "4515" "0" "c.4515C>T" "r.(?)" "p.(Asp1505=)" "" "0000547721" "00024102" "10" "4870" "18" "4870" "18" "c.4870+18C>A" "r.(=)" "p.(=)" "" "0000547721" "00001160" "10" "4726" "18" "4726" "18" "c.4726+18C>A" "r.(=)" "p.(=)" "" "0000547724" "00024102" "50" "4901" "0" "4901" "0" "c.4901G>A" "r.(?)" "p.(Arg1634Gln)" "" "0000547724" "00001160" "50" "4757" "0" "4757" "0" "c.4757G>A" "r.(?)" "p.(Arg1586Gln)" "" "0000547725" "00024102" "30" "5100" "13" "5100" "13" "c.5100+13G>A" "r.(=)" "p.(=)" "" "0000547725" "00001160" "30" "4956" "13" "4956" "13" "c.4956+13G>A" "r.(=)" "p.(=)" "" "0000547726" "00024102" "10" "5100" "16" "5100" "16" "c.5100+16C>T" "r.(=)" "p.(=)" "" "0000547726" "00001160" "10" "4956" "16" "4956" "16" "c.4956+16C>T" "r.(=)" "p.(=)" "" "0000547727" "00024102" "10" "5208" "0" "5208" "0" "c.5208C>T" "r.(?)" "p.(Ser1736=)" "" "0000547727" "00001160" "10" "5064" "0" "5064" "0" "c.5064C>T" "r.(?)" "p.(Ser1688=)" "" "0000547728" "00024102" "10" "5235" "17" "5235" "17" "c.5235+17C>T" "r.(=)" "p.(=)" "" "0000547728" "00001160" "10" "5091" "17" "5091" "17" "c.5091+17C>T" "r.(=)" "p.(=)" "" "0000547729" "00024102" "10" "5235" "18" "5235" "18" "c.5235+18G>A" "r.(=)" "p.(=)" "" "0000547729" "00001160" "10" "5091" "18" "5091" "18" "c.5091+18G>A" "r.(=)" "p.(=)" "" "0000547730" "00024102" "10" "5241" "0" "5241" "0" "c.5241C>T" "r.(?)" "p.(Ala1747=)" "" "0000547730" "00001160" "10" "5097" "0" "5097" "0" "c.5097C>T" "r.(?)" "p.(Ala1699=)" "" "0000547731" "00024102" "50" "5296" "0" "5296" "0" "c.5296T>C" "r.(?)" "p.(Phe1766Leu)" "" "0000547731" "00001160" "50" "5152" "0" "5152" "0" "c.5152T>C" "r.(?)" "p.(Phe1718Leu)" "" "0000547732" "00024102" "50" "5297" "0" "5297" "0" "c.5297T>G" "r.(?)" "p.(Phe1766Cys)" "" "0000547732" "00001160" "50" "5153" "0" "5153" "0" "c.5153T>G" "r.(?)" "p.(Phe1718Cys)" "" "0000547733" "00024102" "30" "5305" "0" "5305" "0" "c.5305A>G" "r.(?)" "p.(Thr1769Ala)" "" "0000547733" "00001160" "30" "5161" "0" "5161" "0" "c.5161A>G" "r.(?)" "p.(Thr1721Ala)" "" "0000547734" "00024102" "50" "5332" "0" "5332" "0" "c.5332A>G" "r.(?)" "p.(Ile1778Val)" "" "0000547734" "00001160" "50" "5188" "0" "5188" "0" "c.5188A>G" "r.(?)" "p.(Ile1730Val)" "" "0000547735" "00024102" "30" "5343" "0" "5343" "0" "c.5343G>A" "r.(?)" "p.(Ala1781=)" "" "0000547735" "00001160" "30" "5199" "0" "5199" "0" "c.5199G>A" "r.(?)" "p.(Ala1733=)" "" "0000547736" "00024102" "30" "5358" "0" "5358" "0" "c.5358C>A" "r.(?)" "p.(Gly1786=)" "" "0000547736" "00001160" "30" "5214" "0" "5214" "0" "c.5214C>A" "r.(?)" "p.(Gly1738=)" "" "0000547737" "00024102" "10" "5358" "0" "5358" "0" "c.5358C>T" "r.(?)" "p.(Gly1786=)" "" "0000547737" "00001160" "10" "5214" "0" "5214" "0" "c.5214C>T" "r.(?)" "p.(Gly1738=)" "" "0000547738" "00024102" "10" "5358" "0" "5358" "0" "c.5358C>T" "r.(?)" "p.(Gly1786=)" "" "0000547738" "00001160" "10" "5214" "0" "5214" "0" "c.5214C>T" "r.(?)" "p.(Gly1738=)" "" "0000547739" "00024102" "30" "5490" "0" "5490" "0" "c.5490C>G" "r.(?)" "p.(Ala1830=)" "" "0000547739" "00001160" "30" "5346" "0" "5346" "0" "c.5346C>G" "r.(?)" "p.(Ala1782=)" "" "0000547740" "00024102" "50" "5552" "0" "5552" "0" "c.5552G>C" "r.(?)" "p.(Arg1851Pro)" "" "0000547740" "00001160" "50" "5408" "0" "5408" "0" "c.5408G>C" "r.(?)" "p.(Arg1803Pro)" "" "0000547741" "00024102" "50" "5588" "599" "5588" "599" "c.5588+599C>A" "r.(=)" "p.(=)" "" "0000547741" "00001160" "50" "5444" "599" "5444" "599" "c.5444+599C>A" "r.(=)" "p.(=)" "" "0000547742" "00024102" "30" "5588" "750" "5588" "750" "c.5588+750A>G" "r.(=)" "p.(=)" "" "0000547742" "00001160" "30" "5444" "750" "5444" "750" "c.5444+750A>G" "r.(=)" "p.(=)" "" "0000547743" "00024102" "10" "5778" "0" "5778" "0" "c.5778T>C" "r.(?)" "p.(His1926=)" "" "0000547743" "00001160" "10" "5529" "0" "5529" "0" "c.5529T>C" "r.(?)" "p.(His1843=)" "" "0000547744" "00024102" "30" "5842" "0" "5842" "0" "c.5842G>A" "r.(?)" "p.(Glu1948Lys)" "" "0000547744" "00001160" "30" "5593" "0" "5593" "0" "c.5593G>A" "r.(?)" "p.(Glu1865Lys)" "" "0000547746" "00024102" "10" "5858" "0" "5858" "0" "c.5858C>T" "r.(?)" "p.(Thr1953Met)" "" "0000547746" "00001160" "10" "5609" "0" "5609" "0" "c.5609C>T" "r.(?)" "p.(Thr1870Met)" "" "0000547747" "00024102" "10" "5898" "0" "5898" "0" "c.5898G>A" "r.(?)" "p.(Pro1966=)" "" "0000547747" "00001160" "10" "5649" "0" "5649" "0" "c.5649G>A" "r.(?)" "p.(Pro1883=)" "" "0000547750" "00024102" "30" "5920" "0" "5920" "0" "c.5920G>C" "r.(?)" "p.(Ala1974Pro)" "" "0000547750" "00001160" "30" "5671" "0" "5671" "0" "c.5671G>C" "r.(?)" "p.(Ala1891Pro)" "" "0000547751" "00024102" "10" "5929" "11" "5929" "11" "c.5929+11C>T" "r.(=)" "p.(=)" "" "0000547751" "00001160" "10" "5680" "11" "5680" "11" "c.5680+11C>T" "r.(=)" "p.(=)" "" "0000547752" "00024102" "50" "5980" "0" "5980" "0" "c.5980G>C" "r.(?)" "p.(Gly1994Arg)" "" "0000547752" "00001160" "50" "5731" "0" "5731" "0" "c.5731G>C" "r.(?)" "p.(Gly1911Arg)" "" "0000547753" "00024102" "50" "5986" "0" "5986" "0" "c.5986G>A" "r.(?)" "p.(Asp1996Asn)" "" "0000547753" "00001160" "50" "5737" "0" "5737" "0" "c.5737G>A" "r.(?)" "p.(Asp1913Asn)" "" "0000547754" "00024102" "50" "5986" "0" "5986" "0" "c.5986G>T" "r.(?)" "p.(Asp1996Tyr)" "" "0000547754" "00001160" "50" "5737" "0" "5737" "0" "c.5737G>T" "r.(?)" "p.(Asp1913Tyr)" "" "0000547755" "00024102" "30" "6010" "0" "6010" "0" "c.6010C>T" "r.(?)" "p.(Pro2004Ser)" "" "0000547755" "00001160" "30" "5761" "0" "5761" "0" "c.5761C>T" "r.(?)" "p.(Pro1921Ser)" "" "0000547756" "00024102" "10" "6109" "0" "6109" "0" "c.6109A>C" "r.(?)" "p.(Thr2037Pro)" "" "0000547756" "00001160" "10" "5860" "0" "5860" "0" "c.5860A>C" "r.(?)" "p.(Thr1954Pro)" "" "0000547757" "00024102" "10" "6114" "0" "6114" "0" "c.6114A>C" "r.(?)" "p.(Pro2038=)" "" "0000547757" "00001160" "10" "5865" "0" "5865" "0" "c.5865A>C" "r.(?)" "p.(Pro1955=)" "" "0000547758" "00024102" "50" "6143" "0" "6143" "0" "c.6143C>T" "r.(?)" "p.(Pro2048Leu)" "" "0000547758" "00001160" "50" "5894" "0" "5894" "0" "c.5894C>T" "r.(?)" "p.(Pro1965Leu)" "" "0000547759" "00024102" "30" "6167" "0" "6167" "0" "c.6167G>A" "r.(?)" "p.(Arg2056Gln)" "" "0000547759" "00001160" "30" "5918" "0" "5918" "0" "c.5918G>A" "r.(?)" "p.(Arg1973Gln)" "" "0000547760" "00024102" "30" "6167" "0" "6167" "0" "c.6167G>A" "r.(?)" "p.(Arg2056Gln)" "" "0000547760" "00001160" "30" "5918" "0" "5918" "0" "c.5918G>A" "r.(?)" "p.(Arg1973Gln)" "" "0000547761" "00024102" "30" "6167" "0" "6167" "0" "c.6167G>A" "r.(?)" "p.(Arg2056Gln)" "" "0000547761" "00001160" "30" "5918" "0" "5918" "0" "c.5918G>A" "r.(?)" "p.(Arg1973Gln)" "" "0000547762" "00024102" "30" "6289" "0" "6289" "0" "c.6289G>A" "r.(?)" "p.(Val2097Ile)" "" "0000547762" "00001160" "30" "6040" "0" "6040" "0" "c.6040G>A" "r.(?)" "p.(Val2014Ile)" "" "0000547763" "00024102" "30" "6365" "0" "6365" "0" "c.6365C>G" "r.(?)" "p.(Ala2122Gly)" "" "0000547763" "00001160" "30" "6116" "0" "6116" "0" "c.6116C>G" "r.(?)" "p.(Ala2039Gly)" "" "0000547765" "00024102" "50" "6521" "0" "6521" "0" "c.6521A>G" "r.(?)" "p.(Asn2174Ser)" "" "0000547765" "00001160" "50" "6272" "0" "6272" "0" "c.6272A>G" "r.(?)" "p.(Asn2091Ser)" "" "0000547766" "00024102" "30" "6521" "0" "6521" "0" "c.6521A>G" "r.(?)" "p.(Asn2174Ser)" "" "0000547766" "00001160" "30" "6272" "0" "6272" "0" "c.6272A>G" "r.(?)" "p.(Asn2091Ser)" "" "0000547767" "00024102" "30" "6521" "0" "6521" "0" "c.6521A>G" "r.(?)" "p.(Asn2174Ser)" "" "0000547767" "00001160" "30" "6272" "0" "6272" "0" "c.6272A>G" "r.(?)" "p.(Asn2091Ser)" "" "0000547768" "00024102" "50" "6551" "0" "6551" "0" "c.6551G>A" "r.(?)" "p.(Arg2184Lys)" "" "0000547768" "00001160" "50" "6302" "0" "6302" "0" "c.6302G>A" "r.(?)" "p.(Arg2101Lys)" "" "0000547769" "00024102" "30" "6591" "0" "6591" "0" "c.6591G>A" "r.(?)" "p.(Ala2197=)" "" "0000547769" "00001160" "30" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(Ala2114=)" "" "0000547770" "00024102" "30" "6637" "0" "6637" "0" "c.6637G>A" "r.(?)" "p.(Asp2213Asn)" "" "0000547770" "00001160" "30" "6388" "0" "6388" "0" "c.6388G>A" "r.(?)" "p.(Asp2130Asn)" "" "0000614034" "00024102" "10" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Asp57=)" "" "0000614034" "00001160" "10" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Asp57=)" "" "0000614035" "00024102" "50" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Gly69Asp)" "" "0000614035" "00001160" "50" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Gly69Asp)" "" "0000614036" "00024102" "30" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Pro89Leu)" "" "0000614036" "00001160" "30" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Pro89Leu)" "" "0000614043" "00024102" "10" "478" "-19" "478" "-19" "c.478-19T>G" "r.(=)" "p.(=)" "" "0000614043" "00001160" "10" "478" "-19" "478" "-19" "c.478-19T>G" "r.(=)" "p.(=)" "" "0000614044" "00024102" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Gly225Arg)" "" "0000614044" "00001160" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Gly225Arg)" "" "0000614045" "00024102" "30" "1104" "0" "1104" "0" "c.1104G>A" "r.(?)" "p.(Val368=)" "" "0000614045" "00001160" "30" "1104" "0" "1104" "0" "c.1104G>A" "r.(?)" "p.(Val368=)" "" "0000614046" "00024102" "10" "1114" "-291" "1114" "-291" "c.1114-291G>A" "r.(=)" "p.(=)" "" "0000614046" "00001160" "10" "1114" "-291" "1114" "-291" "c.1114-291G>A" "r.(=)" "p.(=)" "" "0000614047" "00024102" "10" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Asp453=)" "" "0000614047" "00001160" "10" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Asp453=)" "" "0000614048" "00024102" "10" "1794" "0" "1794" "0" "c.1794C>T" "r.(?)" "p.(Gly598=)" "" "0000614048" "00001160" "10" "1794" "0" "1794" "0" "c.1794C>T" "r.(?)" "p.(Gly598=)" "" "0000614050" "00024102" "70" "1841" "0" "1841" "0" "c.1841T>G" "r.(?)" "p.(Leu614Arg)" "" "0000614050" "00001160" "70" "1841" "0" "1841" "0" "c.1841T>G" "r.(?)" "p.(Leu614Arg)" "" "0000614051" "00024102" "30" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Phe689=)" "" "0000614051" "00001160" "30" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Phe689=)" "" "0000614052" "00024102" "30" "2232" "0" "2232" "0" "c.2232A>C" "r.(?)" "p.(Leu744=)" "" "0000614052" "00001160" "30" "2232" "0" "2232" "0" "c.2232A>C" "r.(?)" "p.(Leu744=)" "" "0000614053" "00024102" "30" "2241" "0" "2241" "0" "c.2241G>C" "r.(?)" "p.(Val747=)" "" "0000614053" "00001160" "30" "2241" "0" "2241" "0" "c.2241G>C" "r.(?)" "p.(Val747=)" "" "0000614055" "00024102" "10" "2436" "0" "2436" "0" "c.2436C>T" "r.(?)" "p.(Asp812=)" "" "0000614055" "00001160" "10" "2436" "0" "2436" "0" "c.2436C>T" "r.(?)" "p.(Asp812=)" "" "0000614056" "00024102" "10" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000614056" "00001160" "10" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000614058" "00024102" "70" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Arg860Gln)" "" "0000614058" "00001160" "70" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Arg860Gln)" "" "0000614059" "00024102" "30" "2663" "17" "2663" "17" "c.2663+17G>C" "r.(=)" "p.(=)" "" "0000614059" "00001160" "30" "2663" "17" "2663" "17" "c.2663+17G>C" "r.(=)" "p.(=)" "" "0000614060" "00024102" "30" "2914" "-4" "2914" "-4" "c.2914-4G>A" "r.spl?" "p.?" "" "0000614060" "00001160" "30" "2854" "-4" "2854" "-4" "c.2854-4G>A" "r.spl?" "p.?" "" "0000614061" "00024102" "30" "3270" "-7" "3270" "-7" "c.3270-7C>G" "r.(=)" "p.(=)" "" "0000614061" "00001160" "30" "3210" "-7" "3210" "-7" "c.3210-7C>G" "r.(=)" "p.(=)" "" "0000614062" "00024102" "50" "3339" "0" "3339" "0" "c.3339C>A" "r.(?)" "p.(Asn1113Lys)" "" "0000614062" "00001160" "50" "3279" "0" "3279" "0" "c.3279C>A" "r.(?)" "p.(Asn1093Lys)" "" "0000614063" "00024102" "30" "3702" "0" "3702" "0" "c.3702C>T" "r.(?)" "p.(Tyr1234=)" "" "0000614063" "00001160" "30" "3642" "0" "3642" "0" "c.3642C>T" "r.(?)" "p.(Tyr1214=)" "" "0000614064" "00024102" "30" "3714" "0" "3714" "0" "c.3714C>T" "r.(?)" "p.(Ser1238=)" "" "0000614064" "00001160" "30" "3654" "0" "3654" "0" "c.3654C>T" "r.(?)" "p.(Ser1218=)" "" "0000614065" "00024102" "10" "3738" "0" "3738" "0" "c.3738C>T" "r.(?)" "p.(Phe1246=)" "" "0000614065" "00001160" "10" "3678" "0" "3678" "0" "c.3678C>T" "r.(?)" "p.(Phe1226=)" "" "0000614066" "00024102" "10" "3840" "0" "3840" "0" "c.3840C>A" "r.(?)" "p.(Gly1280=)" "" "0000614066" "00001160" "10" "3780" "0" "3780" "0" "c.3780C>A" "r.(?)" "p.(Gly1260=)" "" "0000614067" "00024102" "30" "4090" "-45" "4090" "-45" "c.4090-45C>G" "r.(=)" "p.(=)" "" "0000614067" "00001160" "30" "3946" "-45" "3946" "-45" "c.3946-45C>G" "r.(=)" "p.(=)" "" "0000614068" "00024102" "30" "4090" "-12" "4090" "-12" "c.4090-12G>A" "r.(=)" "p.(=)" "" "0000614068" "00001160" "30" "3946" "-12" "3946" "-12" "c.3946-12G>A" "r.(=)" "p.(=)" "" "0000614069" "00024102" "30" "4212" "0" "4212" "0" "c.4212C>T" "r.(?)" "p.(Ser1404=)" "" "0000614069" "00001160" "30" "4068" "0" "4068" "0" "c.4068C>T" "r.(?)" "p.(Ser1356=)" "" "0000614070" "00024102" "10" "4218" "14" "4218" "14" "c.4218+14A>G" "r.(=)" "p.(=)" "" "0000614070" "00001160" "10" "4074" "14" "4074" "14" "c.4074+14A>G" "r.(=)" "p.(=)" "" "0000614071" "00024102" "50" "4283" "0" "4283" "0" "c.4283A>G" "r.(?)" "p.(Gln1428Arg)" "" "0000614071" "00001160" "50" "4139" "0" "4139" "0" "c.4139A>G" "r.(?)" "p.(Gln1380Arg)" "" "0000614072" "00024102" "50" "4928" "0" "4928" "0" "c.4928G>A" "r.(?)" "p.(Arg1643Gln)" "" "0000614072" "00001160" "50" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595Gln)" "" "0000614073" "00024102" "30" "5294" "0" "5294" "0" "c.5294C>G" "r.(?)" "p.(Ala1765Gly)" "" "0000614073" "00001160" "30" "5150" "0" "5150" "0" "c.5150C>G" "r.(?)" "p.(Ala1717Gly)" "" "0000614074" "00024102" "50" "5431" "0" "5445" "0" "c.5431_5445dup" "r.(?)" "p.(Ser1811_Ile1815dup)" "" "0000614074" "00001160" "50" "5287" "0" "5301" "0" "c.5287_5301dup" "r.(?)" "p.(Ser1763_Ile1767dup)" "" "0000614075" "00024102" "30" "5588" "717" "5588" "717" "c.5588+717G>A" "r.(=)" "p.(=)" "" "0000614075" "00001160" "30" "5444" "717" "5444" "717" "c.5444+717G>A" "r.(=)" "p.(=)" "" "0000614076" "00024102" "30" "5705" "0" "5705" "0" "c.5705G>A" "r.(?)" "p.(Arg1902Gln)" "" "0000614076" "00001160" "30" "5456" "0" "5456" "0" "c.5456G>A" "r.(?)" "p.(Arg1819Gln)" "" "0000614077" "00024102" "30" "5799" "0" "5799" "0" "c.5799G>A" "r.(?)" "p.(Glu1933=)" "" "0000614077" "00001160" "30" "5550" "0" "5550" "0" "c.5550G>A" "r.(?)" "p.(Glu1850=)" "" "0000614079" "00024102" "30" "5886" "0" "5886" "0" "c.5886C>A" "r.(?)" "p.(Ile1962=)" "" "0000614079" "00001160" "30" "5637" "0" "5637" "0" "c.5637C>A" "r.(?)" "p.(Ile1879=)" "" "0000614080" "00024102" "10" "5929" "15" "5929" "15" "c.5929+15C>T" "r.(=)" "p.(=)" "" "0000614080" "00001160" "10" "5680" "15" "5680" "15" "c.5680+15C>T" "r.(=)" "p.(=)" "" "0000614081" "00024102" "30" "6166" "0" "6166" "0" "c.6166C>A" "r.(?)" "p.(Arg2056=)" "" "0000614081" "00001160" "30" "5917" "0" "5917" "0" "c.5917C>A" "r.(?)" "p.(Arg1973=)" "" "0000614082" "00024102" "30" "6167" "0" "6167" "0" "c.6167G>A" "r.(?)" "p.(Arg2056Gln)" "" "0000614082" "00001160" "30" "5918" "0" "5918" "0" "c.5918G>A" "r.(?)" "p.(Arg1973Gln)" "" "0000614083" "00024102" "30" "6517" "0" "6517" "0" "c.6517C>G" "r.(?)" "p.(Pro2173Ala)" "" "0000614083" "00001160" "30" "6268" "0" "6268" "0" "c.6268C>G" "r.(?)" "p.(Pro2090Ala)" "" "0000614084" "00024102" "30" "6521" "0" "6521" "0" "c.6521A>G" "r.(?)" "p.(Asn2174Ser)" "" "0000614084" "00001160" "30" "6272" "0" "6272" "0" "c.6272A>G" "r.(?)" "p.(Asn2091Ser)" "" "0000614086" "00024102" "50" "6637" "0" "6637" "0" "c.6637G>A" "r.(?)" "p.(Asp2213Asn)" "" "0000614086" "00001160" "50" "6388" "0" "6388" "0" "c.6388G>A" "r.(?)" "p.(Asp2130Asn)" "" "0000622858" "00024102" "50" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Ala28Thr)" "" "0000622858" "00001160" "50" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Ala28Thr)" "" "0000622861" "00024102" "50" "5737" "0" "5739" "0" "c.5737_5739del" "r.(?)" "p.(Glu1913del)" "" "0000622861" "00001160" "50" "5488" "0" "5490" "0" "c.5488_5490del" "r.(?)" "p.(Glu1830del)" "" "0000622862" "00024102" "50" "5759" "0" "5759" "0" "c.5759A>G" "r.(?)" "p.(Tyr1920Cys)" "" "0000622862" "00001160" "50" "5510" "0" "5510" "0" "c.5510A>G" "r.(?)" "p.(Tyr1837Cys)" "" "0000622863" "00024102" "50" "6289" "0" "6289" "0" "c.6289G>A" "r.(?)" "p.(Val2097Ile)" "" "0000622863" "00001160" "50" "6040" "0" "6040" "0" "c.6040G>A" "r.(?)" "p.(Val2014Ile)" "" "0000648527" "00024102" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Asp57Asn)" "" "0000648527" "00001160" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Asp57Asn)" "" "0000648531" "00024102" "30" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000648531" "00001160" "30" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Pro817Ser)" "" "0000648532" "00024102" "50" "6280" "0" "6280" "0" "c.6280G>A" "r.(?)" "p.(Val2094Ile)" "" "0000648532" "00001160" "50" "6031" "0" "6031" "0" "c.6031G>A" "r.(?)" "p.(Val2011Ile)" "" "0000648533" "00024102" "50" "6289" "0" "6289" "0" "c.6289G>A" "r.(?)" "p.(Val2097Ile)" "" "0000648533" "00001160" "50" "6040" "0" "6040" "0" "c.6040G>A" "r.(?)" "p.(Val2014Ile)" "" "0000648534" "00024102" "10" "11933" "0" "11933" "0" "c.*5267C>A" "r.(=)" "p.(=)" "" "0000648534" "00001160" "10" "11684" "0" "11684" "0" "c.*5267C>A" "r.(=)" "p.(=)" "" "0000657069" "00024102" "30" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Leu242=)" "" "0000657069" "00001160" "30" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Leu242=)" "" "0000657070" "00024102" "30" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(Asn328=)" "" "0000657070" "00001160" "30" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(Asn328=)" "" "0000657071" "00024102" "30" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Ala519=)" "" "0000657071" "00001160" "30" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Ala519=)" "" "0000657072" "00024102" "10" "4870" "6" "4870" "6" "c.4870+6G>A" "r.(=)" "p.(=)" "" "0000657072" "00001160" "10" "4726" "6" "4726" "6" "c.4726+6G>A" "r.(=)" "p.(=)" "" "0000657073" "00024102" "30" "5294" "0" "5294" "0" "c.5294C>G" "r.(?)" "p.(Ala1765Gly)" "" "0000657073" "00001160" "30" "5150" "0" "5150" "0" "c.5150C>G" "r.(?)" "p.(Ala1717Gly)" "" "0000657074" "00024102" "50" "5595" "0" "5595" "0" "c.5595dup" "r.(?)" "p.(His1866AlafsTer6)" "" "0000657074" "00001160" "50" "5445" "-594" "5445" "-594" "c.5445-594dup" "r.(=)" "p.(=)" "" "0000667495" "00001160" "90" "3497" "0" "3497" "0" "c.3497T>C" "r.(?)" "p.(Ile1166Thr)" "" "0000669166" "00024102" "10" "11933" "0" "11933" "0" "c.*5267C>A" "" "" "" "0000669166" "00001160" "10" "11684" "0" "11684" "0" "c.*5267C>A" "r.(=)" "p.(=)" "" "0000679469" "00024102" "50" "131" "0" "131" "0" "c.131C>A" "r.(?)" "p.(Pro44His)" "" "0000679469" "00001160" "50" "131" "0" "131" "0" "c.131C>A" "r.(?)" "p.(Pro44His)" "" "0000679470" "00024102" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Ala68Thr)" "" "0000679470" "00001160" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Ala68Thr)" "" "0000679476" "00024102" "30" "939" "0" "939" "0" "c.939T>C" "r.(?)" "p.(Pro313=)" "" "0000679476" "00001160" "30" "939" "0" "939" "0" "c.939T>C" "r.(?)" "p.(Pro313=)" "" "0000679477" "00024102" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(His322=)" "" "0000679477" "00001160" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(His322=)" "" "0000679478" "00024102" "50" "2188" "0" "2188" "0" "c.2188T>A" "r.(?)" "p.(Cys730Ser)" "" "0000679478" "00001160" "50" "2188" "0" "2188" "0" "c.2188T>A" "r.(?)" "p.(Cys730Ser)" "" "0000679479" "00024102" "70" "2511" "0" "2511" "0" "c.2511C>A" "r.(?)" "p.(Tyr837Ter)" "" "0000679479" "00001160" "70" "2511" "0" "2511" "0" "c.2511C>A" "r.(?)" "p.(Tyr837Ter)" "" "0000679480" "00024102" "50" "4466" "0" "4466" "0" "c.4466C>T" "r.(?)" "p.(Thr1489Met)" "" "0000679480" "00001160" "50" "4322" "0" "4322" "0" "c.4322C>T" "r.(?)" "p.(Thr1441Met)" "" "0000679481" "00024102" "30" "4755" "0" "4755" "0" "c.4755C>T" "r.(?)" "p.(Arg1585=)" "" "0000679481" "00001160" "30" "4611" "0" "4611" "0" "c.4611C>T" "r.(?)" "p.(Arg1537=)" "" "0000679482" "00024102" "30" "5167" "0" "5167" "0" "c.5167G>A" "r.(?)" "p.(Ala1723Thr)" "" "0000679482" "00001160" "30" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Ala1675Thr)" "" "0000679483" "00024102" "30" "5263" "0" "5263" "0" "c.5263G>A" "r.(?)" "p.(Val1755Ile)" "" "0000679483" "00001160" "30" "5119" "0" "5119" "0" "c.5119G>A" "r.(?)" "p.(Val1707Ile)" "" "0000679484" "00024102" "30" "5567" "0" "5567" "0" "c.5567C>T" "r.(?)" "p.(Ala1856Val)" "" "0000679484" "00001160" "30" "5423" "0" "5423" "0" "c.5423C>T" "r.(?)" "p.(Ala1808Val)" "" "0000679485" "00024102" "30" "5588" "599" "5588" "599" "c.5588+599C>A" "r.(=)" "p.(=)" "" "0000679485" "00001160" "30" "5444" "599" "5444" "599" "c.5444+599C>A" "r.(=)" "p.(=)" "" "0000679486" "00024102" "30" "5700" "0" "5700" "0" "c.5700C>T" "r.(?)" "p.(His1900=)" "" "0000679486" "00001160" "30" "5451" "0" "5451" "0" "c.5451C>T" "r.(?)" "p.(His1817=)" "" "0000679487" "00024102" "30" "6224" "0" "6224" "0" "c.6224G>T" "r.(?)" "p.(Cys2075Phe)" "" "0000679487" "00001160" "30" "5975" "0" "5975" "0" "c.5975G>T" "r.(?)" "p.(Cys1992Phe)" "" "0000679488" "00024102" "50" "6517" "0" "6517" "0" "c.6517C>G" "r.(?)" "p.(Pro2173Ala)" "" "0000679488" "00001160" "50" "6268" "0" "6268" "0" "c.6268C>G" "r.(?)" "p.(Pro2090Ala)" "" "0000679489" "00024102" "30" "6592" "0" "6606" "0" "c.6592_6606dup" "r.(?)" "p.(Gly2198_Ala2202dup)" "" "0000679489" "00001160" "30" "6343" "0" "6357" "0" "c.6343_6357dup" "r.(?)" "p.(Gly2115_Ala2119dup)" "" "0000691319" "00024102" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Val585Met)" "" "0000691319" "00001160" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Val585Met)" "" "0000691320" "00024102" "50" "1969" "0" "1969" "0" "c.1969del" "r.(?)" "p.(Leu657SerfsTer47)" "" "0000691320" "00001160" "50" "1969" "0" "1969" "0" "c.1969del" "r.(?)" "p.(Leu657SerfsTer47)" "" "0000691323" "00024102" "10" "4848" "0" "4848" "0" "c.4848G>A" "r.(?)" "p.(Thr1616=)" "" "0000691323" "00001160" "10" "4704" "0" "4704" "0" "c.4704G>A" "r.(?)" "p.(Thr1568=)" "" "0000723993" "00024102" "90" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Arg)" "" "0000723993" "00001160" "90" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Arg)" "" "0000723994" "00024102" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Gln)" "" "0000723994" "00001160" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Gln)" "" "0000723995" "00024102" "50" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Val622Ile)" "" "0000723995" "00001160" "50" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Val622Ile)" "" "0000723996" "00024102" "50" "2530" "1" "2530" "1" "c.2530+1G>A" "r.spl?" "p.?" "" "0000723996" "00001160" "50" "2530" "1" "2530" "1" "c.2530+1G>A" "r.spl?" "p.?" "" "0000723997" "00024102" "10" "3363" "0" "3363" "0" "c.3363T>C" "r.(?)" "p.(Val1121=)" "" "0000723997" "00001160" "10" "3303" "0" "3303" "0" "c.3303T>C" "r.(?)" "p.(Val1101=)" "" "0000723998" "00024102" "30" "5250" "0" "5250" "0" "c.5250G>A" "r.(?)" "p.(Leu1750=)" "" "0000723998" "00001160" "30" "5106" "0" "5106" "0" "c.5106G>A" "r.(?)" "p.(Leu1702=)" "" "0000723999" "00024102" "30" "5555" "0" "5555" "0" "c.5555T>C" "r.(?)" "p.(Val1852Ala)" "" "0000723999" "00001160" "30" "5411" "0" "5411" "0" "c.5411T>C" "r.(?)" "p.(Val1804Ala)" "" "0000724000" "00024102" "30" "5588" "668" "5588" "668" "c.5588+668C>T" "r.(=)" "p.(=)" "" "0000724000" "00001160" "30" "5444" "668" "5444" "668" "c.5444+668C>T" "r.(=)" "p.(=)" "" "0000724001" "00024102" "30" "5588" "702" "5588" "702" "c.5588+702T>G" "r.(=)" "p.(=)" "" "0000724001" "00001160" "30" "5444" "702" "5444" "702" "c.5444+702T>G" "r.(=)" "p.(=)" "" "0000805674" "00024102" "10" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Tyr282=)" "" "0000805674" "00001160" "10" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Tyr282=)" "" "0000805675" "00024102" "50" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Gly335Ser)" "" "0000805675" "00001160" "50" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Gly335Ser)" "" "0000805676" "00024102" "50" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.(Asp448Asn)" "" "0000805676" "00001160" "50" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.(Asp448Asn)" "" "0000805677" "00024102" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000805677" "00001160" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000805678" "00024102" "30" "1669" "10" "1669" "10" "c.1669+10G>A" "r.(=)" "p.(=)" "" "0000805678" "00001160" "30" "1669" "10" "1669" "10" "c.1669+10G>A" "r.(=)" "p.(=)" "" "0000805679" "00024102" "50" "2132" "0" "2132" "0" "c.2132T>C" "r.(?)" "p.(Val711Ala)" "" "0000805679" "00001160" "50" "2132" "0" "2132" "0" "c.2132T>C" "r.(?)" "p.(Val711Ala)" "" "0000805680" "00024102" "30" "2232" "0" "2232" "0" "c.2232A>C" "r.(?)" "p.(Leu744=)" "" "0000805680" "00001160" "30" "2232" "0" "2232" "0" "c.2232A>C" "r.(?)" "p.(Leu744=)" "" "0000805681" "00024102" "50" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Gly813Arg)" "" "0000805681" "00001160" "50" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Gly813Arg)" "" "0000805682" "00024102" "50" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Ile938Thr)" "" "0000805682" "00001160" "50" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Ile938Thr)" "" "0000805683" "00024102" "10" "3174" "0" "3174" "0" "c.3174G>C" "r.(?)" "p.(Leu1058=)" "" "0000805683" "00001160" "10" "3114" "0" "3114" "0" "c.3114G>C" "r.(?)" "p.(Leu1038=)" "" "0000805684" "00024102" "30" "3627" "0" "3627" "0" "c.3627C>T" "r.(?)" "p.(Cys1209=)" "" "0000805684" "00001160" "30" "3567" "0" "3567" "0" "c.3567C>T" "r.(?)" "p.(Cys1189=)" "" "0000805685" "00024102" "50" "4219" "-2" "4219" "-2" "c.4219-2A>G" "r.spl?" "p.?" "" "0000805685" "00001160" "50" "4075" "-2" "4075" "-2" "c.4075-2A>G" "r.spl?" "p.?" "" "0000805686" "00024102" "30" "5167" "0" "5167" "0" "c.5167G>A" "r.(?)" "p.(Ala1723Thr)" "" "0000805686" "00001160" "30" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Ala1675Thr)" "" "0000805687" "00024102" "30" "5727" "0" "5727" "0" "c.5727G>A" "r.(?)" "p.(Ala1909=)" "" "0000805687" "00001160" "30" "5478" "0" "5478" "0" "c.5478G>A" "r.(?)" "p.(Ala1826=)" "" "0000817816" "00001160" "70" "1382" "0" "1382" "0" "c.1382C>A" "r.(?)" "p.(Pro461His)" "" "0000853348" "00024102" "10" "371" "17" "371" "17" "c.371+17G>A" "r.(=)" "p.(=)" "" "0000853348" "00001160" "10" "371" "17" "371" "17" "c.371+17G>A" "r.(=)" "p.(=)" "" "0000853353" "00024102" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(Thr320=)" "" "0000853353" "00001160" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(Thr320=)" "" "0000853354" "00024102" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Asp367=)" "" "0000853354" "00001160" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Asp367=)" "" "0000853356" "00024102" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Ala519Thr)" "" "0000853356" "00001160" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Ala519Thr)" "" "0000853357" "00024102" "10" "2531" "-20" "2531" "-20" "c.2531-20T>C" "r.(=)" "p.(=)" "" "0000853357" "00001160" "10" "2531" "-20" "2531" "-20" "c.2531-20T>C" "r.(=)" "p.(=)" "" "0000853358" "00024102" "90" "2573" "0" "2573" "0" "c.2573G>A" "r.(?)" "p.(Arg858His)" "" "0000853358" "00001160" "90" "2573" "0" "2573" "0" "c.2573G>A" "r.(?)" "p.(Arg858His)" "" "0000853359" "00024102" "30" "2664" "-7" "2664" "-7" "c.2664-7C>T" "r.(=)" "p.(=)" "" "0000853359" "00001160" "30" "2664" "-7" "2664" "-7" "c.2664-7C>T" "r.(=)" "p.(=)" "" "0000853360" "00024102" "30" "4026" "0" "4026" "0" "c.4026C>T" "r.(?)" "p.(Ser1342=)" "" "0000853360" "00001160" "30" "3882" "0" "3882" "0" "c.3882C>T" "r.(?)" "p.(Ser1294=)" "" "0000853361" "00024102" "30" "4284" "77" "4284" "77" "c.4284+77G>T" "r.(=)" "p.(=)" "" "0000853361" "00001160" "30" "4140" "77" "4140" "77" "c.4140+77G>T" "r.(=)" "p.(=)" "" "0000853362" "00024102" "10" "4755" "0" "4755" "0" "c.4755C>T" "r.(?)" "p.(Arg1585=)" "" "0000853362" "00001160" "10" "4611" "0" "4611" "0" "c.4611C>T" "r.(?)" "p.(Arg1537=)" "" "0000853363" "00024102" "30" "4848" "0" "4848" "0" "c.4848G>T" "r.(?)" "p.(Thr1616=)" "" "0000853363" "00001160" "30" "4704" "0" "4704" "0" "c.4704G>T" "r.(?)" "p.(Thr1568=)" "" "0000853364" "00024102" "50" "4955" "0" "4955" "0" "c.4955T>G" "r.(?)" "p.(Val1652Gly)" "" "0000853364" "00001160" "50" "4811" "0" "4811" "0" "c.4811T>G" "r.(?)" "p.(Val1604Gly)" "" "0000853365" "00024102" "30" "5100" "122" "5100" "122" "c.5100+122C>T" "r.(=)" "p.(=)" "" "0000853365" "00001160" "30" "4956" "122" "4956" "122" "c.4956+122C>T" "r.(=)" "p.(=)" "" "0000853366" "00024102" "30" "5241" "0" "5241" "0" "c.5241C>G" "r.(?)" "p.(Ala1747=)" "" "0000853366" "00001160" "30" "5097" "0" "5097" "0" "c.5097C>G" "r.(?)" "p.(Ala1699=)" "" "0000853367" "00024102" "30" "5588" "647" "5588" "647" "c.5588+647A>G" "r.(=)" "p.(=)" "" "0000853367" "00001160" "30" "5444" "647" "5444" "647" "c.5444+647A>G" "r.(=)" "p.(=)" "" "0000853368" "00024102" "30" "5694" "-170" "5694" "-170" "c.5694-170A>G" "r.(=)" "p.(=)" "" "0000853368" "00001160" "30" "5445" "-170" "5445" "-170" "c.5445-170A>G" "r.(=)" "p.(=)" "" "0000853369" "00024102" "50" "5980" "0" "5980" "0" "c.5980G>C" "r.(?)" "p.(Gly1994Arg)" "" "0000853369" "00001160" "50" "5731" "0" "5731" "0" "c.5731G>C" "r.(?)" "p.(Gly1911Arg)" "" "0000853370" "00024102" "30" "6218" "0" "6218" "0" "c.6218T>C" "r.(?)" "p.(Ile2073Thr)" "" "0000853370" "00001160" "30" "5969" "0" "5969" "0" "c.5969T>C" "r.(?)" "p.(Ile1990Thr)" "" "0000853371" "00024102" "30" "6289" "0" "6289" "0" "c.6289G>A" "r.(?)" "p.(Val2097Ile)" "" "0000853371" "00001160" "30" "6040" "0" "6040" "0" "c.6040G>A" "r.(?)" "p.(Val2014Ile)" "" "0000853372" "00024102" "30" "6636" "0" "6636" "0" "c.6636G>A" "r.(?)" "p.(Gln2212=)" "" "0000853372" "00001160" "30" "6387" "0" "6387" "0" "c.6387G>A" "r.(?)" "p.(Gln2129=)" "" "0000862951" "00024102" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "0000862951" "00001160" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "0000862954" "00024102" "30" "3807" "0" "3807" "0" "c.3807C>T" "r.(?)" "p.(Ile1269=)" "" "0000862954" "00001160" "30" "3747" "0" "3747" "0" "c.3747C>T" "r.(?)" "p.(Ile1249=)" "" "0000862955" "00024102" "10" "4057" "-18" "4057" "-18" "c.4057-18A>G" "r.(=)" "p.(=)" "" "0000862955" "00001160" "10" "3913" "-18" "3913" "-18" "c.3913-18A>G" "r.(=)" "p.(=)" "" "0000862956" "00024102" "10" "5236" "-15" "5236" "-14" "c.5236-15_5236-14dup" "r.(=)" "p.(=)" "" "0000862956" "00001160" "10" "5092" "-15" "5092" "-14" "c.5092-15_5092-14dup" "r.(=)" "p.(=)" "" "0000862957" "00024102" "50" "5365" "0" "5365" "0" "c.5365G>A" "r.(?)" "p.(Glu1789Lys)" "" "0000862957" "00001160" "50" "5221" "0" "5221" "0" "c.5221G>A" "r.(?)" "p.(Glu1741Lys)" "" "0000862958" "00024102" "50" "6365" "0" "6365" "0" "c.6365C>G" "r.(?)" "p.(Ala2122Gly)" "" "0000862958" "00001160" "50" "6116" "0" "6116" "0" "c.6116C>G" "r.(?)" "p.(Ala2039Gly)" "" "0000878875" "00024102" "70" "4245" "0" "4245" "0" "c.4245C>G" "r.(?)" "p.(Ile1415Met)" "35" "0000878875" "00001160" "70" "4101" "0" "4101" "0" "c.4101C>G" "r.(?)" "p.(Ile1367Met)" "33" "0000890495" "00024102" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Ala68Thr)" "" "0000890495" "00001160" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Ala68Thr)" "" "0000890496" "00024102" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asn153=)" "" "0000890496" "00001160" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asn153=)" "" "0000890505" "00024102" "30" "792" "0" "792" "0" "c.792C>A" "r.(?)" "p.(Ala264=)" "" "0000890505" "00001160" "30" "792" "0" "792" "0" "c.792C>A" "r.(?)" "p.(Ala264=)" "" "0000890506" "00024102" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Pro334=)" "" "0000890506" "00001160" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Pro334=)" "" "0000890507" "00024102" "30" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Asn550Ser)" "" "0000890507" "00001160" "30" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Asn550Ser)" "" "0000890508" "00024102" "50" "2104" "-2" "2104" "-2" "c.2104-2A>G" "r.spl?" "p.?" "" "0000890508" "00001160" "50" "2104" "-2" "2104" "-2" "c.2104-2A>G" "r.spl?" "p.?" "" "0000890509" "00024102" "50" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Glu770Lys)" "" "0000890509" "00001160" "50" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Glu770Lys)" "" "0000890510" "00024102" "50" "2409" "0" "2409" "0" "c.2409G>T" "r.(?)" "p.(Lys803Asn)" "" "0000890510" "00001160" "50" "2409" "0" "2409" "0" "c.2409G>T" "r.(?)" "p.(Lys803Asn)" "" "0000890511" "00024102" "50" "3433" "0" "3433" "0" "c.3433A>G" "r.(?)" "p.(Ile1145Val)" "" "0000890511" "00001160" "50" "3373" "0" "3373" "0" "c.3373A>G" "r.(?)" "p.(Ile1125Val)" "" "0000890512" "00024102" "30" "4056" "0" "4056" "0" "c.4056C>T" "r.(?)" "p.(Asn1352=)" "" "0000890512" "00001160" "30" "3912" "0" "3912" "0" "c.3912C>T" "r.(?)" "p.(Asn1304=)" "" "0000890513" "00024102" "30" "4314" "0" "4314" "0" "c.4314C>T" "r.(?)" "p.(Thr1438=)" "" "0000890513" "00001160" "30" "4170" "0" "4170" "0" "c.4170C>T" "r.(?)" "p.(Thr1390=)" "" "0000890514" "00024102" "10" "4767" "13" "4767" "13" "c.4767+13G>A" "r.(=)" "p.(=)" "" "0000890514" "00001160" "10" "4623" "13" "4623" "13" "c.4623+13G>A" "r.(=)" "p.(=)" "" "0000890515" "00024102" "30" "4870" "9" "4870" "9" "c.4870+9G>A" "r.(=)" "p.(=)" "" "0000890515" "00001160" "30" "4726" "9" "4726" "9" "c.4726+9G>A" "r.(=)" "p.(=)" "" "0000890516" "00024102" "10" "5236" "-20" "5236" "-20" "c.5236-20C>T" "r.(=)" "p.(=)" "" "0000890516" "00001160" "10" "5092" "-20" "5092" "-20" "c.5092-20C>T" "r.(=)" "p.(=)" "" "0000890517" "00024102" "10" "5487" "0" "5487" "0" "c.5487C>T" "r.(?)" "p.(Pro1829=)" "" "0000890517" "00001160" "10" "5343" "0" "5343" "0" "c.5343C>T" "r.(?)" "p.(Pro1781=)" "" "0000890519" "00024102" "30" "5588" "599" "5588" "599" "c.5588+599C>A" "r.(=)" "p.(=)" "" "0000890519" "00001160" "30" "5444" "599" "5444" "599" "c.5444+599C>A" "r.(=)" "p.(=)" "" "0000890520" "00024102" "70" "5968" "0" "5968" "0" "c.5968C>T" "r.(?)" "p.(Gln1990*)" "" "0000890520" "00001160" "70" "5719" "0" "5719" "0" "c.5719C>T" "r.(?)" "p.(Gln1907*)" "" "0000890521" "00024102" "30" "6034" "-9" "6034" "-9" "c.6034-9T>C" "r.(=)" "p.(=)" "" "0000890521" "00001160" "30" "5785" "-9" "5785" "-9" "c.5785-9T>C" "r.(=)" "p.(=)" "" "0000909458" "00001160" "50" "6272" "0" "6272" "0" "c.6272A>G" "r.(?)" "p.(Asn2091Ser)" "" "0000913816" "00024102" "10" "2385" "0" "2385" "0" "c.2385A>C" "r.(?)" "p.(Ala795=)" "" "0000913816" "00001160" "10" "2385" "0" "2385" "0" "c.2385A>C" "r.(?)" "p.(Ala795=)" "" "0000913817" "00024102" "10" "3846" "0" "3846" "0" "c.3846C>T" "r.(?)" "p.(Phe1282=)" "" "0000913817" "00001160" "10" "3786" "0" "3786" "0" "c.3786C>T" "r.(?)" "p.(Phe1262=)" "" "0000913818" "00024102" "50" "3868" "0" "3868" "0" "c.3868C>T" "r.(?)" "p.(Leu1290Phe)" "" "0000913818" "00001160" "50" "3808" "0" "3808" "0" "c.3808C>T" "r.(?)" "p.(Leu1270Phe)" "" "0000913819" "00024102" "50" "4176" "0" "4176" "0" "c.4176G>C" "r.(?)" "p.(Glu1392Asp)" "" "0000913819" "00001160" "50" "4032" "0" "4032" "0" "c.4032G>C" "r.(?)" "p.(Glu1344Asp)" "" "0000913820" "00024102" "10" "4182" "0" "4182" "0" "c.4182C>T" "r.(?)" "p.(Ile1394=)" "" "0000913820" "00001160" "10" "4038" "0" "4038" "0" "c.4038C>T" "r.(?)" "p.(Ile1346=)" "" "0000913821" "00024102" "30" "4755" "0" "4755" "0" "c.4755C>T" "r.(?)" "p.(Arg1585=)" "" "0000913821" "00001160" "30" "4611" "0" "4611" "0" "c.4611C>T" "r.(?)" "p.(Arg1537=)" "" "0000913822" "00024102" "30" "5250" "0" "5250" "0" "c.5250G>A" "r.(?)" "p.(Leu1750=)" "" "0000913822" "00001160" "30" "5106" "0" "5106" "0" "c.5106G>A" "r.(?)" "p.(Leu1702=)" "" "0000913823" "00024102" "10" "5325" "0" "5325" "0" "c.5325G>A" "r.(?)" "p.(Pro1775=)" "" "0000913823" "00001160" "10" "5181" "0" "5181" "0" "c.5181G>A" "r.(?)" "p.(Pro1727=)" "" "0000913824" "00024102" "10" "5898" "0" "5898" "0" "c.5898G>A" "r.(?)" "p.(Pro1966=)" "" "0000913824" "00001160" "10" "5649" "0" "5649" "0" "c.5649G>A" "r.(?)" "p.(Pro1883=)" "" "0000913825" "00024102" "30" "5929" "11" "5929" "11" "c.5929+11C>T" "r.(=)" "p.(=)" "" "0000913825" "00001160" "30" "5680" "11" "5680" "11" "c.5680+11C>T" "r.(=)" "p.(=)" "" "0000913826" "00024102" "10" "5929" "15" "5929" "15" "c.5929+15C>T" "r.(=)" "p.(=)" "" "0000913826" "00001160" "10" "5680" "15" "5680" "15" "c.5680+15C>T" "r.(=)" "p.(=)" "" "0000921064" "00001160" "90" "4623" "1" "4623" "1" "c.4623+1G>A" "r.spl?" "p.?" "" "0000925607" "00024102" "30" "1114" "-291" "1114" "-291" "c.1114-291G>A" "r.(=)" "p.(=)" "" "0000925607" "00001160" "30" "1114" "-291" "1114" "-291" "c.1114-291G>A" "r.(=)" "p.(=)" "" "0000925608" "00024102" "50" "1558" "0" "1558" "0" "c.1558G>A" "r.(?)" "p.(Ala520Thr)" "" "0000925608" "00001160" "50" "1558" "0" "1558" "0" "c.1558G>A" "r.(?)" "p.(Ala520Thr)" "" "0000925609" "00024102" "10" "4090" "-84" "4090" "-84" "c.4090-84G>A" "r.(=)" "p.(=)" "" "0000925609" "00001160" "10" "3946" "-84" "3946" "-84" "c.3946-84G>A" "r.(=)" "p.(=)" "" "0000925610" "00024102" "70" "4508" "0" "4508" "0" "c.4508A>G" "r.(?)" "p.(Tyr1503Cys)" "" "0000925610" "00001160" "70" "4364" "0" "4364" "0" "c.4364A>G" "r.(?)" "p.(Tyr1455Cys)" "" "0000925611" "00024102" "50" "6250" "0" "6250" "0" "c.6250G>A" "r.(?)" "p.(Gly2084Ser)" "" "0000925611" "00001160" "50" "6001" "0" "6001" "0" "c.6001G>A" "r.(?)" "p.(Gly2001Ser)" "" "0000930064" "00024102" "50" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Thr171Met)" "" "0000930064" "00001160" "50" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Thr171Met)" "" "0000930065" "00024102" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "" "0000930065" "00001160" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "" "0000930066" "00024102" "50" "916" "1" "916" "1" "c.916+1G>A" "r.spl?" "p.?" "" "0000930066" "00001160" "50" "916" "1" "916" "1" "c.916+1G>A" "r.spl?" "p.?" "" "0000930071" "00024102" "50" "5997" "0" "5997" "0" "c.5997G>C" "r.(?)" "p.(Gln1999His)" "" "0000930071" "00001160" "50" "5748" "0" "5748" "0" "c.5748G>C" "r.(?)" "p.(Gln1916His)" "" "0000949929" "00024102" "30" "3417" "-16" "3417" "-16" "c.3417-16C>A" "r.(=)" "p.(=)" "" "0000949929" "00001160" "30" "3357" "-16" "3357" "-16" "c.3357-16C>A" "r.(=)" "p.(=)" "" "0000949930" "00024102" "50" "5997" "0" "5997" "0" "c.5997G>C" "r.(?)" "p.(Gln1999His)" "" "0000949930" "00001160" "50" "5748" "0" "5748" "0" "c.5748G>C" "r.(?)" "p.(Gln1916His)" "" "0000949931" "00024102" "10" "6034" "-15" "6034" "-15" "c.6034-15C>A" "r.(=)" "p.(=)" "" "0000949931" "00001160" "10" "5785" "-15" "5785" "-15" "c.5785-15C>A" "r.(=)" "p.(=)" "" "0000949932" "00024102" "50" "6267" "0" "6267" "0" "c.6267C>A" "r.(?)" "p.(Ser2089Arg)" "" "0000949932" "00001160" "50" "6018" "0" "6018" "0" "c.6018C>A" "r.(?)" "p.(Ser2006Arg)" "" "0000966852" "00024102" "50" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000966852" "00001160" "50" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000966853" "00024102" "10" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(=)" "" "0000966853" "00001160" "10" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(=)" "" "0000966854" "00024102" "30" "1391" "-2478" "1391" "-2478" "c.1391-2478G>T" "r.(=)" "p.(=)" "" "0000966854" "00001160" "30" "1391" "-2478" "1391" "-2478" "c.1391-2478G>T" "r.(=)" "p.(=)" "" "0000966856" "00024102" "50" "5534" "0" "5534" "0" "c.5534C>A" "r.(?)" "p.(Pro1845His)" "" "0000966856" "00001160" "50" "5390" "0" "5390" "0" "c.5390C>A" "r.(?)" "p.(Pro1797His)" "" "0000980191" "00024102" "50" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Pro40Ser)" "" "0000980191" "00001160" "50" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Pro40Ser)" "" "0000980193" "00024102" "30" "477" "69123" "477" "69123" "c.477+69123C>T" "r.(=)" "p.(=)" "" "0000980193" "00001160" "30" "477" "69123" "477" "69123" "c.477+69123C>T" "r.(=)" "p.(=)" "" "0000980197" "00024102" "30" "478" "-134826" "478" "-134826" "c.478-134826C>G" "r.(=)" "p.(=)" "" "0000980197" "00001160" "30" "478" "-134826" "478" "-134826" "c.478-134826C>G" "r.(=)" "p.(=)" "" "0000980198" "00024102" "30" "478" "-27053" "478" "-27052" "c.478-27053_478-27052del" "r.(=)" "p.(=)" "" "0000980198" "00001160" "30" "478" "-27053" "478" "-27052" "c.478-27053_478-27052del" "r.(=)" "p.(=)" "" "0000980202" "00024102" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(Thr320=)" "" "0000980202" "00001160" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(Thr320=)" "" "0000980203" "00024102" "30" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Ile938Thr)" "" "0000980203" "00001160" "30" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Ile938Thr)" "" "0000980204" "00024102" "50" "3436" "0" "3436" "0" "c.3436G>A" "r.(?)" "p.(Asp1146Asn)" "" "0000980204" "00001160" "50" "3376" "0" "3376" "0" "c.3376G>A" "r.(?)" "p.(Asp1126Asn)" "" "0000980205" "00024102" "30" "3889" "-912" "3889" "-912" "c.3889-912C>T" "r.(=)" "p.(=)" "" "0000980205" "00001160" "30" "3829" "-1580" "3829" "-1580" "c.3829-1580C>T" "r.(=)" "p.(=)" "" "0000980206" "00024102" "30" "4767" "9" "4767" "9" "c.4767+9T>C" "r.(=)" "p.(=)" "" "0000980206" "00001160" "30" "4623" "9" "4623" "9" "c.4623+9T>C" "r.(=)" "p.(=)" "" "0000980207" "00024102" "30" "4870" "9" "4870" "9" "c.4870+9G>A" "r.(=)" "p.(=)" "" "0000980207" "00001160" "30" "4726" "9" "4726" "9" "c.4726+9G>A" "r.(=)" "p.(=)" "" "0000980208" "00024102" "50" "4870" "1653" "4870" "1653" "c.4870+1653G>A" "r.(=)" "p.(=)" "" "0000980208" "00001160" "50" "4726" "1653" "4726" "1653" "c.4726+1653G>A" "r.(=)" "p.(=)" "" "0000980210" "00024102" "30" "5167" "0" "5167" "0" "c.5167G>A" "r.(?)" "p.(Ala1723Thr)" "" "0000980210" "00001160" "30" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Ala1675Thr)" "" "0000980211" "00024102" "30" "5241" "0" "5241" "0" "c.5241C>T" "r.(?)" "p.(Ala1747=)" "" "0000980211" "00001160" "30" "5097" "0" "5097" "0" "c.5097C>T" "r.(?)" "p.(Ala1699=)" "" "0000980212" "00024102" "30" "5263" "0" "5263" "0" "c.5263G>A" "r.(?)" "p.(Val1755Ile)" "" "0000980212" "00001160" "30" "5119" "0" "5119" "0" "c.5119G>A" "r.(?)" "p.(Val1707Ile)" "" "0000980213" "00024102" "50" "5284" "0" "5284" "0" "c.5284G>A" "r.(?)" "p.(Gly1762Ser)" "" "0000980213" "00001160" "50" "5140" "0" "5140" "0" "c.5140G>A" "r.(?)" "p.(Gly1714Ser)" "" "0000980214" "00024102" "50" "5567" "0" "5567" "0" "c.5567C>T" "r.(?)" "p.(Ala1856Val)" "" "0000980214" "00001160" "50" "5423" "0" "5423" "0" "c.5423C>T" "r.(?)" "p.(Ala1808Val)" "" "0000980215" "00024102" "30" "6033" "314" "6033" "314" "c.6033+314G>A" "r.(=)" "p.(=)" "" "0000980215" "00001160" "30" "5784" "314" "5784" "314" "c.5784+314G>A" "r.(=)" "p.(=)" "" "0000980216" "00024102" "50" "6365" "0" "6365" "0" "c.6365C>G" "r.(?)" "p.(Ala2122Gly)" "" "0000980216" "00001160" "50" "6116" "0" "6116" "0" "c.6116C>G" "r.(?)" "p.(Ala2039Gly)" "" "0000989645" "00001160" "50" "2638" "0" "2638" "0" "c.2638T>C" "r.(?)" "p.(Phe880Leu)" "" "0000989658" "00001160" "70" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Cys)" "" "0000989676" "00001160" "50" "4395" "0" "4395" "0" "c.4395C>G" "r.(?)" "p.(Phe1465Leu)" "" "0000989677" "00001160" "50" "5119" "0" "5119" "0" "c.5119G>A" "r.(?)" "p.(Val1707Ile)" "" "0000989678" "00001160" "70" "2578" "0" "2578" "0" "c.2578C>G" "r.(?)" "p.(Arg860Gly)" "" "0000999907" "00024102" "70" "197" "0" "197" "0" "c.197del" "r.(?)" "p.(Gly66Alafs*42)" "" "0000999907" "00001160" "70" "197" "0" "197" "0" "c.197del" "r.(?)" "p.(Gly66Alafs*42)" "" "0000999916" "00024102" "50" "673" "0" "673" "0" "c.673G>C" "r.(?)" "p.(Gly225Arg)" "" "0000999916" "00001160" "50" "673" "0" "673" "0" "c.673G>C" "r.(?)" "p.(Gly225Arg)" "" "0000999917" "00024102" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Val331Met)" "" "0000999917" "00001160" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Val331Met)" "" "0000999918" "00024102" "30" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425Trp)" "" "0000999918" "00001160" "30" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425Trp)" "" "0000999922" "00024102" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "0000999922" "00001160" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "0000999924" "00024102" "30" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Gln)" "" "0000999924" "00001160" "30" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Gln)" "" "0000999925" "00024102" "50" "2620" "0" "2620" "0" "c.2620A>G" "r.(?)" "p.(Met874Val)" "" "0000999925" "00001160" "50" "2620" "0" "2620" "0" "c.2620A>G" "r.(?)" "p.(Met874Val)" "" "0000999926" "00024102" "50" "2837" "0" "2837" "0" "c.2837T>C" "r.(?)" "p.(Ile946Thr)" "" "0000999926" "00001160" "50" "2837" "0" "2837" "0" "c.2837T>C" "r.(?)" "p.(Ile946Thr)" "" "0000999927" "00024102" "50" "3428" "0" "3428" "0" "c.3428G>A" "r.(?)" "p.(Arg1143His)" "" "0000999927" "00001160" "50" "3368" "0" "3368" "0" "c.3368G>A" "r.(?)" "p.(Arg1123His)" "" "0000999928" "00024102" "50" "3536" "0" "3536" "0" "c.3536A>G" "r.(?)" "p.(Asn1179Ser)" "" "0000999928" "00001160" "50" "3476" "0" "3476" "0" "c.3476A>G" "r.(?)" "p.(Asn1159Ser)" "" "0000999929" "00024102" "50" "3634" "0" "3634" "0" "c.3634T>A" "r.(?)" "p.(Tyr1212Asn)" "" "0000999929" "00001160" "50" "3574" "0" "3574" "0" "c.3574T>A" "r.(?)" "p.(Tyr1192Asn)" "" "0000999930" "00024102" "50" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Val1247Ile)" "" "0000999930" "00001160" "50" "3679" "0" "3679" "0" "c.3679G>A" "r.(?)" "p.(Val1227Ile)" "" "0000999931" "00024102" "50" "3778" "-17" "3778" "-17" "c.3778-17C>G" "r.(=)" "p.(=)" "" "0000999931" "00001160" "50" "3718" "-17" "3718" "-17" "c.3718-17C>G" "r.(=)" "p.(=)" "" "0000999932" "00024102" "10" "4089" "17" "4089" "17" "c.4089+17C>T" "r.(=)" "p.(=)" "" "0000999932" "00001160" "10" "3945" "17" "3945" "17" "c.3945+17C>T" "r.(=)" "p.(=)" "" "0000999933" "00024102" "50" "5117" "0" "5117" "0" "c.5117T>G" "r.(?)" "p.(Leu1706Arg)" "" "0000999933" "00001160" "50" "4973" "0" "4973" "0" "c.4973T>G" "r.(?)" "p.(Leu1658Arg)" "" "0000999934" "00024102" "50" "5125" "0" "5125" "0" "c.5125A>G" "r.(?)" "p.(Ile1709Val)" "" "0000999934" "00001160" "50" "4981" "0" "4981" "0" "c.4981A>G" "r.(?)" "p.(Ile1661Val)" "" "0000999935" "00024102" "50" "5306" "0" "5306" "0" "c.5306C>G" "r.(?)" "p.(Thr1769Ser)" "" "0000999935" "00001160" "50" "5162" "0" "5162" "0" "c.5162C>G" "r.(?)" "p.(Thr1721Ser)" "" "0000999936" "00024102" "50" "5849" "0" "5849" "0" "c.5849G>A" "r.(?)" "p.(Arg1950Gln)" "" "0000999936" "00001160" "50" "5600" "0" "5600" "0" "c.5600G>A" "r.(?)" "p.(Arg1867Gln)" "" "0000999937" "00024102" "30" "6267" "0" "6267" "0" "c.6267C>A" "r.(?)" "p.(Ser2089Arg)" "" "0000999937" "00001160" "30" "6018" "0" "6018" "0" "c.6018C>A" "r.(?)" "p.(Ser2006Arg)" "" "0000999938" "00024102" "50" "6274" "0" "6274" "0" "c.6274C>T" "r.(?)" "p.(Arg2092Trp)" "" "0000999938" "00001160" "50" "6025" "0" "6025" "0" "c.6025C>T" "r.(?)" "p.(Arg2009Trp)" "" "0000999939" "00024102" "30" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "" "0000999939" "00001160" "30" "6193" "0" "6193" "0" "c.6193G>A" "r.(?)" "p.(Asp2065Asn)" "" "0000999940" "00024102" "50" "6488" "0" "6488" "0" "c.6488A>G" "r.(?)" "p.(Asn2163Ser)" "" "0000999940" "00001160" "50" "6239" "0" "6239" "0" "c.6239A>G" "r.(?)" "p.(Asn2080Ser)" "" "0000999941" "00024102" "30" "6517" "0" "6517" "0" "c.6517C>G" "r.(?)" "p.(Pro2173Ala)" "" "0000999941" "00001160" "30" "6268" "0" "6268" "0" "c.6268C>G" "r.(?)" "p.(Pro2090Ala)" "" "0000999942" "00024102" "30" "6521" "0" "6521" "0" "c.6521A>G" "r.(?)" "p.(Asn2174Ser)" "" "0000999942" "00001160" "30" "6272" "0" "6272" "0" "c.6272A>G" "r.(?)" "p.(Asn2091Ser)" "" "0000999943" "00024102" "30" "6565" "0" "6565" "0" "c.6565G>A" "r.(?)" "p.(Asp2189Asn)" "" "0000999943" "00001160" "30" "6316" "0" "6316" "0" "c.6316G>A" "r.(?)" "p.(Asp2106Asn)" "" "0001014955" "00024102" "50" "3040" "0" "3040" "0" "c.3040G>A" "r.(?)" "p.(Val1014Met)" "" "0001014955" "00001160" "50" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Val994Met)" "" "0001014956" "00024102" "30" "5799" "0" "5799" "0" "c.5799G>A" "r.(?)" "p.(Glu1933=)" "" "0001014956" "00001160" "30" "5550" "0" "5550" "0" "c.5550G>A" "r.(?)" "p.(Glu1850=)" "" "0001014957" "00024102" "50" "6250" "0" "6250" "0" "c.6250G>A" "r.(?)" "p.(Gly2084Ser)" "" "0001014957" "00001160" "50" "6001" "0" "6001" "0" "c.6001G>A" "r.(?)" "p.(Gly2001Ser)" "" "0001016264" "00001160" "50" "5228" "0" "5228" "0" "c.5228C>T" "r.(?)" "p.(Pro1743Leu)" "" "0001016705" "00001160" "70" "4275" "0" "4275" "0" "c.4275C>A" "r.(?)" "p.(Cys1425Ter)" "" "0001019607" "00001160" "50" "4003" "0" "4003" "0" "c.4003C>G" "r.(?)" "p.(Arg1335Gly)" "" "0001020095" "00001160" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Pro1526Leu)" "" "0001022124" "00001160" "50" "513" "0" "513" "0" "c.513G>A" "r.513G>A" "p.Thr171=" "4" "0001026149" "00024102" "30" "135" "0" "135" "0" "c.135C>G" "r.(?)" "p.(=)" "" "0001026149" "00001160" "30" "135" "0" "135" "0" "c.135C>G" "r.(?)" "p.(=)" "" "0001026150" "00024102" "50" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asn153=)" "" "0001026150" "00001160" "50" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asn153=)" "" "0001026152" "00024102" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Cys)" "" "0001026152" "00001160" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Cys)" "" "0001026153" "00024102" "30" "3216" "17" "3216" "17" "c.3216+17G>A" "r.(=)" "p.(=)" "" "0001026153" "00001160" "30" "3156" "17" "3156" "17" "c.3156+17G>A" "r.(=)" "p.(=)" "" "0001026154" "00024102" "50" "3391" "0" "3391" "0" "c.3391G>A" "r.(?)" "p.(Val1131Ile)" "" "0001026154" "00001160" "50" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Val1111Ile)" "" "0001026155" "00024102" "50" "4928" "0" "4928" "0" "c.4928G>A" "r.(?)" "p.(Arg1643Gln)" "" "0001026155" "00001160" "50" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595Gln)" "" "0001026156" "00024102" "30" "5100" "17" "5100" "17" "c.5100+17G>A" "r.(=)" "p.(=)" "" "0001026156" "00001160" "30" "4956" "17" "4956" "17" "c.4956+17G>A" "r.(=)" "p.(=)" "" "0001026157" "00024102" "30" "5294" "0" "5294" "0" "c.5294C>G" "r.(?)" "p.(Ala1765Gly)" "" "0001026157" "00001160" "30" "5150" "0" "5150" "0" "c.5150C>G" "r.(?)" "p.(Ala1717Gly)" "" "0001026158" "00024102" "30" "5588" "609" "5588" "609" "c.5588+609C>T" "r.(=)" "p.(=)" "" "0001026158" "00001160" "30" "5444" "609" "5444" "609" "c.5444+609C>T" "r.(=)" "p.(=)" "" "0001026159" "00024102" "30" "6034" "-15" "6034" "-15" "c.6034-15C>A" "r.(=)" "p.(=)" "" "0001026159" "00001160" "30" "5785" "-15" "5785" "-15" "c.5785-15C>A" "r.(=)" "p.(=)" "" "0001026160" "00024102" "50" "6345" "0" "6345" "0" "c.6345T>C" "r.(?)" "p.(=)" "" "0001026160" "00001160" "50" "6096" "0" "6096" "0" "c.6096T>C" "r.(?)" "p.(=)" "" "0001026161" "00024102" "30" "6521" "0" "6521" "0" "c.6521A>G" "r.(?)" "p.(Asn2174Ser)" "" "0001026161" "00001160" "30" "6272" "0" "6272" "0" "c.6272A>G" "r.(?)" "p.(Asn2091Ser)" "" "0001039121" "00024102" "30" "-60406" "0" "-60406" "0" "c.-60406C>T" "r.(?)" "p.(=)" "" "0001039121" "00001160" "30" "-60406" "0" "-60406" "0" "c.-60406C>T" "r.(?)" "p.(=)" "" "0001039137" "00024102" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Ala26Thr)" "" "0001039137" "00001160" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Ala26Thr)" "" "0001039138" "00024102" "50" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Gly47Glu)" "" "0001039138" "00001160" "50" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Gly47Glu)" "" "0001039139" "00024102" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Asp57=)" "" "0001039139" "00001160" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Asp57=)" "" "0001039142" "00024102" "30" "477" "40974" "477" "40974" "c.477+40974T>A" "r.(=)" "p.(=)" "" "0001039142" "00001160" "30" "477" "40974" "477" "40974" "c.477+40974T>A" "r.(=)" "p.(=)" "" "0001039143" "00024102" "30" "477" "43195" "477" "43195" "c.477+43195G>A" "r.(=)" "p.(=)" "" "0001039143" "00001160" "30" "477" "43195" "477" "43195" "c.477+43195G>A" "r.(=)" "p.(=)" "" "0001039154" "00024102" "50" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Ser469Asn)" "" "0001039154" "00001160" "50" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Ser469Asn)" "" "0001039155" "00024102" "30" "1509" "-1189" "1509" "-1189" "c.1509-1189C>T" "r.(=)" "p.(=)" "" "0001039155" "00001160" "30" "1509" "-1189" "1509" "-1189" "c.1509-1189C>T" "r.(=)" "p.(=)" "" "0001039156" "00024102" "10" "1669" "10" "1669" "10" "c.1669+10G>A" "r.(=)" "p.(=)" "" "0001039156" "00001160" "10" "1669" "10" "1669" "10" "c.1669+10G>A" "r.(=)" "p.(=)" "" "0001039157" "00024102" "30" "1895" "19" "1895" "19" "c.1895+19C>G" "r.(=)" "p.(=)" "" "0001039157" "00001160" "30" "1895" "19" "1895" "19" "c.1895+19C>G" "r.(=)" "p.(=)" "" "0001039158" "00024102" "30" "1895" "4563" "1895" "4563" "c.1895+4563dup" "r.(=)" "p.(=)" "" "0001039158" "00001160" "30" "1895" "4563" "1895" "4563" "c.1895+4563dup" "r.(=)" "p.(=)" "" "0001039159" "00024102" "30" "1895" "5031" "1895" "5031" "c.1895+5031C>A" "r.(=)" "p.(=)" "" "0001039159" "00001160" "30" "1895" "5031" "1895" "5031" "c.1895+5031C>A" "r.(=)" "p.(=)" "" "0001039160" "00024102" "30" "1895" "5163" "1895" "5163" "c.1895+5163T>C" "r.(=)" "p.(=)" "" "0001039160" "00001160" "30" "1895" "5163" "1895" "5163" "c.1895+5163T>C" "r.(=)" "p.(=)" "" "0001039161" "00024102" "30" "1895" "5208" "1895" "5208" "c.1895+5208T>C" "r.(=)" "p.(=)" "" "0001039161" "00001160" "30" "1895" "5208" "1895" "5208" "c.1895+5208T>C" "r.(=)" "p.(=)" "" "0001039162" "00024102" "30" "1895" "5218" "1895" "5218" "c.1895+5218del" "r.(=)" "p.(=)" "" "0001039162" "00001160" "30" "1895" "5218" "1895" "5218" "c.1895+5218del" "r.(=)" "p.(=)" "" "0001039163" "00024102" "50" "1946" "0" "1946" "0" "c.1946G>A" "r.(?)" "p.(Arg649His)" "" "0001039163" "00001160" "50" "1946" "0" "1946" "0" "c.1946G>A" "r.(?)" "p.(Arg649His)" "" "0001039164" "00024102" "50" "2224" "4" "2224" "4" "c.2224+4T>A" "r.spl?" "p.?" "" "0001039164" "00001160" "50" "2224" "4" "2224" "4" "c.2224+4T>A" "r.spl?" "p.?" "" "0001039165" "00024102" "30" "3318" "0" "3318" "0" "c.3318C>T" "r.(?)" "p.(=)" "" "0001039165" "00001160" "30" "3258" "0" "3258" "0" "c.3258C>T" "r.(?)" "p.(=)" "" "0001039166" "00024102" "10" "4089" "18" "4089" "18" "c.4089+18G>A" "r.(=)" "p.(=)" "" "0001039166" "00001160" "10" "3945" "18" "3945" "18" "c.3945+18G>A" "r.(=)" "p.(=)" "" "0001039167" "00024102" "50" "4090" "-63" "4090" "-63" "c.4090-63C>T" "r.(=)" "p.(=)" "" "0001039167" "00001160" "50" "3946" "-63" "3946" "-63" "c.3946-63C>T" "r.(=)" "p.(=)" "" "0001039168" "00024102" "30" "4182" "0" "4182" "0" "c.4182C>T" "r.(?)" "p.(Ile1394=)" "" "0001039168" "00001160" "30" "4038" "0" "4038" "0" "c.4038C>T" "r.(?)" "p.(Ile1346=)" "" "0001039170" "00024102" "50" "4675" "0" "4675" "0" "c.4675C>T" "r.(?)" "p.(Arg1559Cys)" "" "0001039170" "00001160" "50" "4531" "0" "4531" "0" "c.4531C>T" "r.(?)" "p.(Arg1511Cys)" "" "0001039175" "00024102" "50" "4904" "0" "4904" "0" "c.4904C>T" "r.(?)" "p.(Ala1635Val)" "" "0001039175" "00001160" "50" "4760" "0" "4760" "0" "c.4760C>T" "r.(?)" "p.(Ala1587Val)" "" "0001039178" "00024102" "10" "5436" "0" "5436" "0" "c.5436C>T" "r.(?)" "p.(Asn1812=)" "" "0001039178" "00001160" "10" "5292" "0" "5292" "0" "c.5292C>T" "r.(?)" "p.(Asn1764=)" "" "0001039179" "00024102" "30" "5588" "599" "5588" "599" "c.5588+599C>A" "r.(=)" "p.(=)" "" "0001039179" "00001160" "30" "5444" "599" "5444" "599" "c.5444+599C>A" "r.(=)" "p.(=)" "" "0001039180" "00024102" "30" "5822" "174" "5822" "174" "c.5822+174C>T" "r.(=)" "p.(=)" "" "0001039180" "00001160" "30" "5573" "174" "5573" "174" "c.5573+174C>T" "r.(=)" "p.(=)" "" "0001039181" "00024102" "50" "6076" "0" "6076" "0" "c.6076C>T" "r.(?)" "p.(His2026Tyr)" "" "0001039181" "00001160" "50" "5827" "0" "5827" "0" "c.5827C>T" "r.(?)" "p.(His1943Tyr)" "" "0001046372" "00024102" "30" "3417" "-16" "3417" "-16" "c.3417-16C>A" "r.(=)" "p.(=)" "" "0001046372" "00001160" "30" "3357" "-16" "3357" "-16" "c.3357-16C>A" "r.(=)" "p.(=)" "" "0001046373" "00024102" "30" "5727" "0" "5727" "0" "c.5727G>A" "r.(?)" "p.(Ala1909=)" "" "0001046373" "00001160" "30" "5478" "0" "5478" "0" "c.5478G>A" "r.(?)" "p.(Ala1826=)" "" "0001046374" "00024102" "50" "6289" "0" "6289" "0" "c.6289G>A" "r.(?)" "p.(Val2097Ile)" "" "0001046374" "00001160" "50" "6040" "0" "6040" "0" "c.6040G>A" "r.(?)" "p.(Val2014Ile)" "" "0001046979" "00001160" "50" "3568" "0" "3568" "0" "c.3568G>T" "r.(?)" "p.(Val1190Leu)" "" "0001047012" "00001160" "50" "4183" "0" "4183" "0" "c.4183C>T" "r.(?)" "p.(Arg1395Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005087" "0000000209" "0000005088" "0000000209" "0000005089" "0000000210" "0000013031" "0000000210" "0000013032" "0000000210" "0000013033" "0000000210" "0000013034" "0000029030" "0000089011" "0000029038" "0000052379" "0000064847" "0000096491" "0000144624" "0000235430" "0000144624" "0000235431" "0000144625" "0000235432" "0000181838" "0000405534" "0000291838" "0000648527" "0000291842" "0000648531" "0000291843" "0000648532" "0000291844" "0000648533" "0000291845" "0000648534" "0000304097" "0000667495" "0000305478" "0000669166" "0000389023" "0000817816" "0000418959" "0000878875" "0000435126" "0000921064" "0000454744" "0000989645" "0000454757" "0000989658" "0000454775" "0000989676" "0000454776" "0000989677" "0000454777" "0000989678" "0000462597" "0001022124"